Search

We report our experience with correction of radially deviated Wassel type III thumb polydactyly. After comprehensive assessments from preoperative radiographs, physical examinations and intraoperative reports, we corrected the metacarpophalangeal joint in 34 cases of radially deviated Wassel type III thumb polydactyly. Opening-wedge osteotomies combining bone graft and soft tissue reconstruction were used in 28 cases and soft tissue reconstruction only in six cases. Absorbable sutures were used instead of traditional Kirschner (K)-wires to fix the bone grafts. Patients were followed up for 12-78 months (mean 47 months). According to the Tada scoring system, 25 patients achieved good results, seven fair results and two poor results. Our modified technique for correcting radially deviated Wassel type III thumb polydactyly yielded satisfactory results. Continued follow-up and further studies will contribute to a better understanding of the long-term efficacy and potential refinements of this technique. Level of evidence: IV., Competing Interests: Declaration of conflicting interestsThe authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies., Method: Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately., Results: The prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non-isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort., Conclusion: Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non-isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities., (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Objective: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS)., Methods: This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes., Results: All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term., Conclusion: Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester., (© 2024 John Wiley & Sons Ltd.)

Background: Previous classifications in polydactyly of the thumb were by the level of duplication on radiography. This study aimed to develop a practical algorithm based on physical characteristics for treatment guidelines., Methods: The polydactylies were stratified using four physical characteristics: floating, symmetry, dominant side, and joint angulation/nail size. The algorithm identified the hypoplastic type and then stratified the polydactylies as symmetric and asymmetric. The asymmetric type was divided into ulnar dominant and radial dominant. The symmetric type was divided into adequate type and inadequate type. The prediction of treatments was studied retrospectively by the distribution of surgical procedures in 500 patients with 545 affected thumbs, by the new classification and the Wassel-Flatt classification., Results: Of the 545 polydactylies, 78 (14.5%) were categorized as the hypoplastic type, 369 (67.5%) as the ulnar-dominant type, 8 (1.5%) as the radial-dominant type, 70 (12.8%) as the symmetric adequate nail type, and 20 (3.7%) as the symmetric inadequate type. Treatments were excision and reconstruction in 403 polydactylies (73.9%), simple excision in 135 polydactylies (24.8%), and the Bilhaut-Cloquet procedure, ray amputation, and on-top plasty procedures were only performed in 7 polydactylies (1.3%). The distribution of surgical procedures was distinct among the new classification types and was similar among the Wassel-Flatt types., Conclusions: The new classification stratified polydactylies by physical findings in a stepwise manner. Though surgical technical details are not included, this simple classification is useful for paediatricians and parents to understand how a surgical decision is made., Level of Evidence: Diagnostic Level IV., Competing Interests: Conflict of interest The authors declare that they have no potential conflicts of interest for this study., (Copyright © 2024 Taiwan Pediatric Association. Published by Elsevier B.V. All rights reserved.)

Background: To investigate the functional and aesthetic results of a new modified Bilhaut-Cloquet procedure for the treatment of Wassel type III-IV thumb polydactyly., Methods: Thirteen patients with Wassel type III-IV thumb polydactyly who visited the Department of Orthopedics of Hebei Provincial Children's Hospital from 2019 to 2022 were selected. The surgical procedure involved a modified Bilhaut-Cloquet surgery, where two-thirds of the distal part of the dominant finger was retained as the p body of the reconstructed thumb. The triangular bone block of the ablated distal thumb that did not contain the epiphysis and articular cartilage was sutured and fixed, and the neurovascular flap of the ablated distal thumb was used as an augmenting segment of the reconstructed thumb, with the nail bed and nail matrix exquisitely sutured. The evaluation performed according to the Japanese Society for Surgery of the Hand (JSSH) system., Results: All 13 children showed bone healing, no wound infection, nonunion, or deformity healing. None of the children showed a significant reduction in the active and passive mobility of the thumb postoperatively compared with preoperatively. Postoperative evaluation was performed based on the JSSH score, with a mean of 17.15 points (14-19 points), with 11 children rated as excellent and two as good. No severe nail ridges, nail gaps, or nail split deformities of the thumb were observed postoperatively. Postoperative metacarpophalangeal and interphalangeal joint movements were not reduced compared with preoperative movements. All parents were satisfied with the appearance and function of the reconstructed thumb., Conclusion: The modified Bilhaut-Cloquet procedure designed in this study was satisfactory for Wassel type III-IV thumb polydactyly without affecting the stability of the interphalangeal joints and preserving joint mobility. The postoperative thumb has a comparable circumference and nail width and was cosmetically and functionally satisfactory, especially for the asymmetric two thumbs, which achieved favorable results., (© 2024. The Author(s).)

Purpose: We aimed to subdivide modified type III radial polydactyly and evaluate the applied surgical procedures and outcomes according to the subtypes., Methods: This study included 32 thumbs of 32 patients treated for modified Wassel-Flatt type III radial polydactyly from March 2008 to December 2018. Each patient was subclassified into parallel, divergent, and convergent types according to the alignment of the duplicated digit. The parallel type was further divided according to the treatment method applied. The parallel A group comprised patients treated with reconstructing the radial collateral ligament of the interphalangeal (IP) joint after removing only the distal phalanx and preserving the proximal phalanx of the extra digit, and the parallel B group comprised patients treated with excision of the extra digit at the bifurcation site of the proximal phalanx. We evaluated the Japanese Society for Surgery of the Hand scores and radiographic angulation of the IP and metacarpophalangeal joints at a mean follow-up of 38 months., Results: Fourteen cases were parallel type (6 and 8 in the parallel A and B groups, respectively), 14 were divergent type, and 4 were convergent type. Patients in the parallel A group had significantly better IP and metacarpophalangeal joint angulation and Japanese Society for Surgery of the Hand scores than those in the parallel B group. Patients in the parallel A group had significantly better Japanese Society for Surgery of the Hand scores than those in the divergent and convergent groups., Conclusions: Reconstructing the radial collateral ligament of the IP joint after removing only the distal phalanx and preserving the proximal phalanx of the extra digit was associated with better outcomes than the excision of the extra digit at the bifurcation site in the parallel type cases. The parallel type treated with proximal phalanx preservation and ligament reconstruction had better clinical outcomes than other types of modified Wassel-Flatt type III radial polydactyly., Type of Study/level of Evidence: Prognostic IV., (Copyright © 2024. Published by Elsevier Inc.)

Introduction: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens., Case Presentation: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected., Conclusion: MPPH syndrome with PHPV can be diagnosed prenatally., (© 2023 S. Karger AG, Basel.)

Background: Postaxial polydactyly of the foot is one of the most common congenital abnormalities. A wide forefoot, short toe, and lateral joint deviation are associated with aesthetic and functional outcomes. This study used the Watanabe-Fujita classification to characterize the preoperative and postoperative skeletal morphology of postaxial polydactyly of the foot., Methods: This retrospective study included 42 patients (51 feet) with postaxial polydactyly treated at age 1 year. Radiographs taken at ages 0 and 3 to 4 years were used for morphologic analysis. The length of the reconstructed toe, the distance between the fourth and fifth metatarsals, and joint deviation angles were measured. The length measures were standardized using the length of the third metatarsal. Morphologic characteristics were compared based on the Watanabe-Fujita classification at ages 0 and 3 to 4 years. Long-term outcomes were also evaluated in patients followed up for longer than 6 years., Results: The fifth-ray proximal phalangeal subtype had the shortest toe length both at ages 0 and 3 to 4 years. Proximal phalangeal joint lateral deviation improved postoperatively in 78% of patients with the fifth-ray middle phalangeal subtype, regardless of reconstruction type. There was no significant change in proximal phalangeal joint deviation between ages 3 to 4 years and 7 years or older. A residual metatarsal was associated with lateral metatarsophalangeal joint deviation and a wide intermetatarsal distance, and required revision surgery., Conclusions: Morphologic changes of postaxial polydactyly of the foot were successfully characterized using the Watanabe-Fujita classification. This classification could be useful for planning surgical strategies and anticipating morphologic outcomes., Clinical Question/level of Evidence: Therapeutic, IV., (Copyright © 2023 by the American Society of Plastic Surgeons.)

A patient was born with a mass at the base of the thumb approximately 1.5 cm in diameter on the radial side of the fingers. The mass had globular swelling filled with hemorrhagic fluid and was dark red. X-rays and histology of the excised specimen suggested the diagnosis of gangrene and torsion of polydactyly. Prenatal torsion of polydactyly is not a common occurrence; moreover, prenatal torsion of polydactyly has only been found in ulnar polydactyly. Our case is a novel case of radial polydactyly that was gangrenous at birth owing to prenatal torsion. Diagnosing such a mass at the base of the thumb is important., Competing Interests: No potential conflict of interest relevant to this article was reported.

Introduction: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes., Case Presentation: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved., Conclusion: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology., (© 2023. The Author(s).)

Introduction: Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger., Case Report: A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far., Discussion: We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Postaxial polydactyly (PAP) is a common abnormality characterized by extra digits on hands and/or feet. To date, sequence variants in seven genes have been identified in non-syndromic PAP. In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal ultrasonography. To better evaluate fetal prognosis, SNP array analysis and trio whole-exome sequencing (trio-WES) were performed to identify the underlying etiology. Although SNP array analysis revealed no abnormality, trio-WES identified compound heterozygous splice site variants in KIAA0825, c.-1-2A>T and c.2247-2A>G in intron 2 and intron 12, respectively. These two splice site variants were absent in control databases and were predicted to influence splicing by in silico analysis. To confirm the potential pathogenicity of the variants, in vitro splicing assays using minigene and RNA from peripheral leukocytes of the heterozygous parents were conducted. Minigene and RT-PCR assays demonstrated that the c.-1-2A>T variant led to the loss of the initiation codon, and the c.2247-2A>G variant mainly resulted in exon 13 skipping. Prenatal WES and subsequent functional studies are important approaches for defining the genetic etiology of fetuses with PAPA and are also essential for accurate genetic counseling and decision making. Taken together, this study expands the spectrum of KIAA0825 variations in PAPA patients and increases the knowledge of the molecular consequences of KIAA0825 splice site variants.

In lateral ray polydactyly, the reconstructed toe often tends to become thicker, but no standard evaluation criteria for this thickness are available. 57 patients (68 toes) with Hirai-Togashi classification type II, III, or IV whom we were able to follow-up for more than 6 months after the operation were underwent measurement of the "Reconstructed toe width to Third toe width ratio." In addition, 16 patients who could be followed up for 3 years through the mid-term course were evaluated for mid-term progress. At 6 months after surgery, the mean R/T ratio was 1.246. In patients who could be followed up for 3 years after surgery, the mean R/T ratios at 6 months after surgery and at 3 years were significantly decreased. This result suggests that the thickness of the reconstructed toe may become relatively thin in the long term., (Copyright © 2021 the American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

Purpose: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020., Methods: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes., Results: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively., Conclusion: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing., (© 2021. The Author(s).)

Background: GLI3 encodes a zinc finger transcription factor that plays a role in the sonic hedgehog pathway. Germline pathogenic GLI3 variants are associated with Greig cephalopolysyndactyly and Pallister-Hall syndromes, two syndromes involving brain malformation and polydactyly., Methods: We identified patients with pathogenic GLI3 variants and brain malformations in the absence of polydactyly or other skeletal malformation., Results: Two patients were identified. Patient #1 is a 4-year-old boy with hypotonia and global developmental delay. Brain MRI showed a focal cortical dysplasia, but he had no history of seizures. Genetic testing identified a de novo likely pathogenic GLI3 variant: c.4453A>T, p.Asn1485Tyr. Patient #2 is a 4-year-old boy with hypotonia, macrocephaly, and global developmental delay. His brain MRI showed partial agenesis of the corpus callosum, dilatation of the right lateral ventricle, and absent hippocampal commissure. Genetic testing identified a de novo pathogenic GLI3 variant: c.4236_4237del, p.Gln1414AspfsTer21. Neither patient had polydactyly or any apparent skeletal abnormality., Conclusions: These patients widen the spectrum of clinical features that may be associated with GLI3 pathogenic variants to include hypotonia, focal cortical dysplasia, and other brain malformations, in the absence of apparent skeletal malformation. Further study is needed to determine if GLI3 pathogenic variants are a more common cause of focal cortical dysplasia or corpus callosum agenesis than presently recognized., (Copyright © 2022 Elsevier Inc. All rights reserved.)

The treatment of postaxial polydactyly requires excision of the medial fifth or lateral sixth toe, and separation of the adjacent fourth/fifth toes if the adjacent toes exhibit skin syndactyly. Morphological changes in the retained toes and reoperation are common problems after such surgery. This study examined the effects of preoperative classifications and selecting the medial fifth or lateral sixth toe for excision on the postoperative outcomes of surgery for postaxial polydactyly. From April 2006 to March 2019, surgery for postaxial polydactyly was performed on 55 feet in 49 patients. The patients' mean age at surgery was 28.8 months. Postoperative esthetic and bone alignment scores, the reoperation rate, and postoperative dysfunction were examined. The postoperative esthetic and bone alignment evaluations were performed by examining postoperative photograph and X-ray images using original scoring systems. The surgical procedure was chosen by the surgeon-in-charge during a preoperative conference after considering the toe growth and bone alignment. In the postoperative esthetic evaluation, excising the lateral sixth toe produced significantly better outcomes than excising the medial fifth toe. The morphological classification also indicated that excising the lateral sixth toe produced better outcomes, as it resulted in the bifurcated toes being clearly independent. Interestingly, the postoperative X-ray-based bone alignment score was not correlated with the esthetic score. The reoperation rate tended to be high after medial fifth toe excision. There were no postoperative functional complications. Lateral sixth toe excision for postaxial polydactyly of the foot produces good postoperative esthetic outcomes., (Copyright © 2021 the American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Radial Polydactyly Type IV-D deformity is difficult to treat because of the most complex bone and soft tissue anomalies. Resection and reconstruction for one of the two thumbs was an option for treatment., Objective: The study was to present our method of resection and reconstruction with a new incision for radial polydactyly Type IV-D and evaluate the clinical efficacy comprehensively using Rotterdam assessment system in a large sample., Methods: 206 cases of type IV-D thumb duplication underwent resection and reconstruction surgical treatment between 2010 and 2019. Two equal triangle flap incisions were designed around the radial thumb. The radial thumb was resected and the ulnar thumb was reconstructed in aspects of bone, tendons, ligaments and abductor pollicis brevis. The clinical results were evaluated using Rotterdam assessment system., Results: The mean follow-up period was 2.2 years (SD 1.5). The mean age of the patients was 9 months (SD 1.8) at the time of operation. The mean ranges of active IP and MP joint flexion and extension were 110° and 26°. The mean angulations for IP and MP joint instabilities were 3° and 11°, relatively. Angulation for palmar abduction was 58°. The mean appearance domain score was 8.9. The average parental satisfaction score was 2.5 and the average patient-reported pain score was 2.1. The mean functional domain score for all patients was 6.6. The average appearance domain score was 8.9. The mean patient-reported domain score was 4.5. The mean Rotterdam outcome score was 20.0, equivalent to 67% of the full score. The postoperative score of patients over two years old was significantly lower than that of patients under two years old., Conclusion: Resection and reconstruction method with two equal triangle flap incisions was a recommended treatment for radial polydactyly Type IV-D., Level of Evidence: IV., (© 2022. The Author(s).)

The aim of this study was to find the degree of preoperative metacarpophalangeal (MCP) joint angulation that determines the need for corrective osteotomy and to compare the result for Wassel type IV thumb polydactyly operated by soft tissue reconstruction alone or with corrective osteotomy. The surgical options for correction of the angular deformity of the MCP joint in Wassel type IV thumb polydactyly were retrospectively reviewed. The preoperative angular deformity of the MCP joint and the last postoperative residual deformity at MCP joint were measured from the radiograph of thumb posteroanterior view. The cut-off point of the preoperative MCP angulation that provided less residual deformity in patients who were treated by soft tissue procedures alone was identified from receiver operating characteristic curve. A total of 45 patients with 46 thumb polydactyly (Wassel type IV) were studied. Mean pre and postoperative MCP angulation were 24.01 (range 0-68°) and 14.65 (range 0-39°), respectively. Thirty-four thumbs from 33 patients (73.91%) were operated on by soft tissue procedures alone and 12 thumbs (26.09%) needed corrective osteotomy. The best cut-off point of preoperative MCP angulation that showed less significant residual deformity when treated by soft tissue procedure alone was 30° (96.43% sensitivity and 100% specificity). In MCP angulation ≤30°, soft tissue reconstruction alone was an effective method for correction of angular deformity with predictable outcome of no significant residual deformity (0/27 thumbs). In MCP angulation >30°, corrective osteotomy is recommended over soft tissue procedure alone due to achieve proper thumb position and adequate soft tissue balance. There is also a statistical decrease in significant residual deformity [from 85.71% (6/7 cases, treated by soft tissue procedure alone) to 30% (3/10 cases, treated by corrective osteotomy), P < 0.05]. This study proposes the use of preoperative MCP joint angular deformity as a guide to the type of surgical intervention in Wassel type IV thumb polydactyly., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Case: We report a rare case of polymetatarsia without polydactyly. Our patient presented with pain and difficulty with shoewear. Radiographs showed an accessory metatarsal arising from the lateral aspect of the fourth metatarsal proximal metaphysis, fusing distally with the medial aspect of the fifth metatarsal head to form a single metatarsophalangeal joint. He was treated with a chevron osteotomy of the conjoined complex and an Akins osteotomy of the fifth proximal phalanx. Our patient recovered functionally, and his pain improved postoperatively., Conclusion: The chevron osteotomy is an option for treating polymetatarsia without polydactyly with the aim of reducing the forefoot width., Level of Evidence: Case study, level 5., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B676)., (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.)

Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities., Case Report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis., Conclusion: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article., (Copyright © 2021. Published by Elsevier B.V.)

Radiographic findings in several atypical cases of postaxial polydactyly of the foot do not provide sufficient information to assess the cartilaginous structures or duplicated digit connections at the MTP joint. The purpose of this study was to demonstrate the surgical procedures using arthrography for the cartilaginous structures of the MTP joint in postaxial polydactyly of the foot. We performed arthrography in 7 feet of 7 patients with postaxial polydactyly of the foot in which duplication of the proximal phalanx was observed at the fifth MTP joint on the basis of radiographic evaluation. The average age at surgery was 13.5 months and average duration of postsurgical follow-up was 36 months. Individual surgical procedures were confirmed or modified during the operation by reference to the arthrographic findings. Radiographic and arthrographic findings were assessed in relation to the findings from direct observation of the cartilaginous structures at surgery. Postoperative malalignment, functional disturbance and pain in the reconstructed toe were evaluated. The arthrographic findings provided different forms of cartilaginous structures that could be categorized in 4 types, and reflected the cartilaginous connection visualized at surgery that could not be detected on radiographs in each case. No cases revealed any deformities, functional disturbance, or pain in the reconstructed toe after surgery. The parents' evaluation in each case was "very satisfied" or "satisfied." The arthrographic findings provided additional information regarding variations in the cartilaginous structures of the fifth MTP joint and for determining individual surgical procedure for postaxial polydactyly of the foot., (Copyright © 2021 the American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Thumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. However, previous studies had a limited sample size. Therefore, this study used a large sample., Methods: A total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China)., Results: In group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively., Conclusions: There were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different., (© 2021. The Author(s).)

Background and Purpose: Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study., Materials and Methods: Between January 2010 and June 2020, seven hospitals in 2 countries performing fetal MR imaging examinations identified fetal MR imaging studies demonstrating ganglionic eminence enlargement, cavitation, or both. Cases with no genetic diagnosis, no whole exome sequencing, or no outcome of a liveborn child were excluded. Head size was classified as large (fronto-occipital diameter > 95th centile), small (fronto-occipital diameter <5th centile), or normal., Results: Twenty-two fetuses with ganglionic eminence abnormalities were identified. Of 8 with large heads, 2 were diagnosed with MTOR mutations; 1 with PIK3CA mutation-producing megalencephaly, polymicrogyria, polydactyly, hydrocephalus (MPPH) syndrome; 3 with TSC mutations; 1 with megalencephaly capillary malformation syndrome; and 1 with hemimegalencephaly. Cardiac rhabdomyoma was present prenatally in all cases of TSC ; mutation postaxial polydactyly accompanied megalencephaly capillary malformation and MPPH. Of 12 fetuses with small heads, 7 had TUBA1A mutations, 1 had a TUBB3 mutation, 2 had cobblestone lissencephaly postnatally with no genetic diagnosis, 1 had a PDHA1 mutation, and 1 had a fetal akinesia dyskinesia sequence with no pathogenic mutation on trio whole exome sequencing. One of the fetuses with a normal head size had an OPHN1 mutation with postnatal febrile seizures, and the other had peri-Sylvian polymicrogyria, seizures, and severe developmental delay but no explanatory mutation on whole exome sequencing., Conclusions: Fetal head size and extracranial prenatal sonographic findings can refine the phenotype and facilitate genetic diagnosis when ganglionic eminence abnormality is diagnosed with MR imaging., (© 2021 by American Journal of Neuroradiology.)

We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM&#95;005886.3:c.1416+1del in the KATNB1 gene in the older sister. On the other hand, exome sequencing revealed the homozygous frameshift variant NM&#95;005245.4:c.9729del in the FAT1 gene in the younger sister, who had a more complex phenotype: in addition to bilateral anophthalmia and heart defects, she showed a right split foot with 4 toes, 5 metacarpals, second toe duplication and preaxial polydactyly on the right hand. These features have been never reported before in patients with pathogenic FAT1 variants and support the role of this gene in the development of limb buds. Notably, each parent was heterozygous for both of these variants, which were ultra-rare and rare, respectively. This study raises awareness about the value of using whole exome/genome sequencing rather than targeted gene panels when testing affected offspring born to consanguineous couples. In this way, exomic data from the parents are also made available for carrier screening, to identify heterozygous pathogenetic and likely pathogenetic variants in genes responsible for other recessive conditions, which may pose a risk for subsequent pregnancies.

Wassel VI radial polydactyly is associated with metacarpal adduction and radial deviation of the metacarpophalangeal joint of the ulnar duplicate. The soft tissue abnormalities responsible for these deformities were characterized using preoperative multi-planar three-dimensional ultrasound and intraoperative observation in four patients. In all patients, the abductor pollicis brevis and superficial head of the flexor pollicis brevis inserted into the radial first metacarpal, whereas the adductor pollicis and deep head of the flexor pollicis brevis inserted into the ulnar thumb. Aberrant location of the flexor pollicis longus and absence of the A1 pulley system was associated with severe radial deviation. An additional superficial thenar muscle along the ulnar metacarpal was associated with minimal metacarpal adduction. Uneven forces on the ulnar duplicate could be associated with these characteristic deformities and joint instability. Knowledge of these abnormalities allows better planning of surgery and further insight into this rare radial polydactyly configuration. Level of evidence: II.

Background: The aim of the study was to present a new operative technique for aesthetic and anatomic reconstruction of polysyndactyly of the fifth toe fused with the fourth toe., Methods: Surgery was performed in 86 feet in 73 patients with polysyndactyly of the fifth toe fused with the fourth toe. The operation involved polydactyly excision, syndactyly release using an improved dorsal asymmetric gullwing flap for web space reconstruction without skin grafting, and simultaneous correction of valgus deformity and brachydactyly of the toes. The web shape (height and width),scar contracture, and aesthetic outcomes (foot contour and morphology of the reconstructed fifth toe) were assessed using the criterion of D'Arcangelo, Vancouver Scar Scale score, and older children and parent-based satisfactory questionnaire, respectively., Results: The patients were followed up for 12 to 36 months. The reconstructed web spaces were slightly deeper than normal, with an hourglass shape and a physiological slope. Valgus deformity was completely corrected without recurrence. The reconstructed fifth toes appeared to be visually lengthened. On the basis of the criterion of D'Arcangelo, the height and width of the webs were good in 76, fair in 10, and poor in none of the feet. The mean Vancouver Scar Scale score was 1.5. All parents and patients were satisfied with the appearance and function., Conclusions: Our new operative procedure could achieve aesthetic and anatomic reconstruction of polysyndactyly of the fifth toe fused with the fourth toe with good shape of the reconstructed web space without skin grafting, favorable appearance and axis alignment of the reconstructed fifth toes, and good foot contour., Competing Interests: Conflicts of interest: none declared., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Polydactyly is a common congenital hand, foot, or both anomalies characterized by the presence of extra fingers. Postaxial polydactyly is the most common congenital malformation consisting of the lateral or fibular aspect of the foot. Extra finger excision in the treatment of foot polydactyly is considered the basic procedure in surgery. However, in some cases more complex surgeries should be preferred. In this study, the "on-top plasty" method with a minimally invasive approach is presented in a case of complex foot postaxial polydactyly., (Copyright © 2020 the American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

The combination of congenital heart defects and vertebral anomalies with or without additional abnormalities has been reported in many genetic disorders. We describe a family in which four consecutive pregnancies were characterized by the combination of fetal congenital heart malformations and vertebral anomalies. In addition, preaxial polydactyly was detected in one of the fetuses. Reanalysis of the non-diagnostic clinical exome data revealed compound heterozygous variants c.350del, p.(Gly117AlafsTer90) and c.757G > T, p.(Asp253Tyr) in ETV2 which have previously not been known to be associated with a phenotype in humans. In mice, Etv2 encodes an obligatory transcription factor involved in the generation of hematopoietic and endothelial cells. Its homozygous disruption results in embryonic lethality due to severe blood and vessel defects. The Etv2 promoter may be bound by Nkx2-5, a key transcription factor in heart development. Pathogenic variants in the NKx2-5 homolog in humans (NKX2-5) are related to congenital heart defects. The identification of additional fetuses or live-born individuals with biallelic pathogenic variants in ETV2 will shed further light on this presumably novel gene-phenotype association and on the full phenotypic spectrum., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

Clinical expression of Ellis-van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a noncanonical splice-site in-frame change (c.1316-7A>G) in the daughter. Complementary DNA sequencing, immunoblot, and immunofluorescence experiments using patient-derived fibroblasts and Evc -/- mouse embryonic fibroblasts showed that p.Arg622Ter is a loss-of-function mutation, whereas p.Arg663Pro and the splice-site change c.1316-7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as "common atrium/AVCD with postaxial polydactyly" is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype-phenotype correlations in this syndrome., (© 2020 Wiley Periodicals LLC.)

Background: Orofacial digital syndrome is a rare genetic disorder with oral cavity, facial and digits anomalies. Orofacial digital syndrome type II, also called the "Mohr syndrome" is a very rare subtype that has been reported scarcely in Asia especially in Japanese patients., Case Presentation: The case is an Iranian 5-year old girl who had been admitted for orthopedic surgery. She surprisingly had pre and postaxial polydactyly of all the four limbs concurrent with syndromic face and most of the features of Orofaciodigital syndrome type II., Conclusion: Mohr syndrome, anesthesia and surgical considerations are discussed in this case report. It is recommended to consider these considerations and the possibility of OFDS in every child with pre and postaxial polydactyly of the four limbs and to try to distinguish type II from other types of ODFS.

Background: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies., Methods: We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the termination of pregnancy, examination and autopsy further revealed unilateral polydactyly and bilateral syndactyly which had not been previously identified on antenatal ultrasound., Results: Whole-exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the TP63 gene: p.His247Arg: c.740A>G (NM&#95;003722.4) which has been reported in the literature. The His247Arg variant has been published as a pathogenic variant in association with EEC, both with and without orofacial clefting., Conclusion: Our prenatal case expands the phenotypic spectrum of TP63-related disorders in general. In addition, it adds to the phenotype associated with the His247Arg pathogenic variant responsible for EEC. Further, we highlight the importance of WES as a postnatal tool to help clarify unexpected findings, and as a way to add to the spectrum of existing phenotypes of known single-gene disorders., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Purpose: This study was intended to characterize the epidemiological features of thumb polydactyly (TP) in South China., Methods: Clinical records were retrieved from 1 central hospital in South China to identify the patients with a definite diagnosis of TP from January 2004 to January 2017. The cases were classified by their x-ray appearance. The data collected included sex, age at first operation, reoperation, family history, unilateral/bilateral polydactyly, right/left hand involvement in unilateral cases, classification of polydactyly, and the presence of associated congenital anomalies., Results: A total of 428 patients with a definite diagnosis of TP were identified (278 males and 150 females) involving 483 cases, 373 unilateral and 55 bilateral. A syndrome or associated congenital anomaly was found in 26 (18 unilateral and 8 bilateral cases). A dominant thumb, larger and more developed, was observed in 448 hands (93%), and was the ulnar thumb in 433. Owing to postoperative complications, 31 thumbs (6.4%) underwent reoperation. The average interval from initial surgery to reoperation was 4.8 years., Conclusions: Thumb polydactyly had a male predominance in this Chinese cohort, mostly occurring on the right hand with an ulnar dominant thumb. Bilateral cases had a higher incidence of associated anomaly and positive family history than unilateral cases. The need for additional surgery for TP might occur as late as 4.8 years after primary surgery., Type of Study/level of Evidence: Therapeutic IV., (Copyright © 2020 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

LACHT syndrome, or Mardini-Nyhan association, is an ultra-rare disorder, diagnosed solely by the clinical characteristics of lung agenesis, complex cardiac defects, and thumb anomalies. Only 12 patients have been reported worldwide, and here, we report a new clinical diagnosis of LACHT syndrome. Our patient was a male full-term newborn with left lung agenesis, congenital heart defects including ventricular septal defect, right-sided aortic arch, with aberrant left subclavian artery and Kommerell diverticulum, as well as left preaxial polydactyly and hemivertebra. Our patient appears to be the second LACHT syndrome case to also suffer from tracheal stenosis, which has only been reported once before in conjunction with this syndrome. In light of this, tracheal stenosis may be a phenotype for LACHT syndrome., (© 2020 Wiley Periodicals LLC.)

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a developmental brain disorder characterized by an enlarged brain size with bilateral perisylvian polymicrogyria and a variable degree of ventriculomegaly. MPPH syndrome is associated with oromotor dysfunction, epilepsy, intellectual disability and postaxial hexadactyly. The molecular diagnosis of this disorder is established by the identification of a pathogenic variant in either AKT3, CCND2 or PIK3R2. Previously reported AKT3 variants are associated with various brain abnormalities and may lead to megalencephaly. MPPH syndrome is usually due to germline pathogenic AKT3 variants. Somatic mosaic pathogenic variants associated with hemimegalencephaly, which is similar to MPPH, have also been observed. A Hungarian Roma family with two half-siblings, which present with intellectual disability, dysmorphic features, epilepsy, brain malformations, and megalencephaly was studied. Whole exome sequencing (WES) analysis was performed. WES analysis revealed a heterozygous c.1393C > T p.(Arg465Trp) pathogenic missense AKT3 variant in both affected half-siblings. The variant was verified via Sanger sequencing and was not present in the DNA sample from the healthy mother, which was derived from peripheral blood, suggesting maternal germline mosaicism. In conclusion, this is the first report in which maternal germline mosaicism of a rare pathogenic AKT3 variant leads to autosomal dominantly inherited MPPH syndrome., Competing Interests: Declaration of Competing Interest The authors declare that there are no conflicts of interest., (Copyright © 2020. Published by Elsevier Inc.)

Postaxial polydactyly (PAP) is characterized by development of extra digits, which mostly segregates in autosomal recessive pattern. The underlying genetic cause of recessive non-syndromic PAP type A has been associated with sequence variants in five different genes (ZNF141, IQCE, GLI1, FAM92A, KIAA0825). The present study was aimed to investigate clinical and genetic causes of PAPA in a consanguineous family of Pakistani origin. Microsatellite-based linkage analysis was used to search for the disease-causing gene. Linkage in the family was established at chromosome 5q15 harbouring a candidate gene KIAA0825. Subsequently, Sanger sequencing revealed a novel homozygous missense variant [c.50T>C; p. (Leu17Ser)] in the gene, which co-segregated with the disease within the family. Protein structural analysis predicted a substantial change in the secondary structure of the mutant protein affecting its function. This is the third disease causing variant identified in the KIAA0825. This has not only expanded spectrum of the mutations in the gene but also further substantiated its role in the limb development in human., Competing Interests: Declaration of Competing Interest The authors declared that they have no conflict of interest., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510), postaxial polydactyly types A1 (PAPA1) and B (PAPB) (MIM #174200), and preaxial polydactyly type 4 (MIM #174700). All these disorders follow an autosomal dominant pattern of inheritance. Hypothalamic hamartomas (MIM 241800) is associated with somatic variants in GLI3. We report a related couple with parents having PAPA1 and PAPB, who had a fetus with a phenotype most compatible with PHS. Molecular analyses demonstrated homozygosity for a pathogenic GLI3 variant (c.1927C > T; p. Arg643*) in the fetus and heterozygosity in the parents. The genetic analysis in this family demonstrates that heterozygosity and homozygosity for the same GLI3 variant can cause a different phenotype. Furthermore, the occurrence of Pallister-Hall-like syndrome in a homozygous patient should be taken into account in genetic counseling of families with PAPA1/PAPB., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Purpose: Thumb polydactyly and thumb hypoplasia are generally regarded as separate clinical entities. However, several case reports indicate that hypoplasia of both the thumb and the radius can occur in patients with thumb polydactyly and improved understanding of the genetics of the developing upper limb may give an embryologic explanation for this occurrence. Our hypothesis was that patients with preaxial polydactyly can have ipsilateral thumb hypoplasia that may not be recognized until after surgical reconstruction of the extra digit., Methods: We searched our surgical database for all procedures performed on patients with a diagnosis of preaxial polydactyly between 2002 and 2014. We reviewed the medical record for demographic data, surgical procedures, and follow-up information. In addition, all available radiographs were reviewed. Through this, we identified patients with a diagnosis of ipsilateral thumb hypoplasia, including when in the course of treatment the diagnosis was made, and any related subsequent procedures., Results: We reviewed 132 patients who underwent reconstruction of thumb polydactyly, 10 of whom were identified as having evidence of ipsilateral thumb hypoplasia, an incidence of 8.2%. The diagnosis of thumb hypoplasia was made before surgery in 3 of the 10 patients. One additional patient was noted to have a duplicate thumb on one side and a hypoplastic thumb on the contralateral side., Conclusions: This study supports the hypothesis that children with preaxial polydactyly can have ipsilateral thumb hypoplasia that may not be noted before surgery. In this study group, 8% of patients with preaxial polydactyly had ipsilateral hypoplasia., Type of Study/level of Evidence: Prognostic IV., (Copyright © 2020 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

Background: Central polydactyly of foot is uncommon form of polydactyly but it usually causes intermetatarsal widening because of metatarsal bifurcation. Central polydactyly associated with T shaped bifurcation of metatarsal in vertical plane has not been reported yet., Case: We present a 4 year male child with extra toe on the dorsal aspect of right foot with complains of difficulty in wearing footwear and poor cosmesis. The extra digit was fully developed with bifurcation of 2 nd metatarsal bone proximal to the head without any intermetatarsal widening. The angular deviation was 45° to the longitudinal axis of foot and in a plane vertical to the transverse arch of foot. The child was operated with excision of extra toe without any residual bony deformity., Conclusion: The central polydactyly is rare type of polydactyly of foot. Central polydactyly with metatarsal extension causing intermetatarsal widening has been well described entity. But the previous classifications need to be modified to include central polydactyly with vertical oriented T bifurcation of metatarsal bone without intermetatarsal widening., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653&#95;654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653&#95;654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub-Saharan Africa., (© 2019 Wiley Periodicals, Inc.)

Polydactyly of the foot occurs in 1.7 cases per 1000 live births, comprising 45% of congenital abnormalities of the foot. Most reported cases of polydactyly of the foot are postaxial, and 15% are preaxial; of those, tarsal type preaxial polydactyly (a true prehallux) occurs in only 3% of cases. Because of this rarity, there is minimal literature available to guide management or surgical reconstruction. Two newborns presented with similar tarsal type preaxial polydactylies in the context of multiple congenital anomalies at a single institution. Patient 1 presented at birth with an accessory digit arising medially from the right foot at the medial malleolus. Two weeks later, genetically unrelated, patient 2 presented at birth with an accessory digit arising medially from the right foot at the talus. Both patients underwent resection of the extra digit and reconstruction including transfer of the accessory anterior tibial tendon arising from the preaxial extra digit to the remaining first ray. Two years after surgery, both patients are walking well with preserved dorsiflexion strength. Given the rarity of true prehallux cases, reported surgical treatment and outcomes are lacking. This case demonstrates the management of 2 patients to better guide future patient care. Although nonsurgical treatment with shoewear modification is an option, surgical reconstruction facilitated wearing typical shoes while preserving ambulatory ability. Both patients in this series had an accessory anterior tibial tendon. Surgical transfer of the tendon prevented loss of dorsiflexion strength and foot drop postoperatively., (Copyright © 2018 the American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)