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Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg. The malformation is mostly isolated but may occur together with other disorders or malformations such as synostosis, acro-syndactyly, cleft hand, clinodactyly, or polydactyly. Syndromic syndactyly can be observed in cases of Apert syndrome, Poland's syndrome, Pfeiffer syndrome, and many others. A girl born in June of 2019 was diagnosed with congenital malformation of the right hand at birth—affecting the right middle, ring, and little fingers, respectively. After X-ray imaging, the fusion of the third and fourth proximal phalanges to a common metacarpal was identified, forming a unique diagnosis of clino-syndactyly with metacarpal aplasia. Surgical intervention was advocated for, including a wedge osteotomy to correct the synchondrosis at the phalangeal base and a dorsal flap to close the interdigital space created during the correction of the III and IV. fingers. A trapezoid flap for the release of the syndactyly of the IV and V. fingers was applied. The paper aims to present this surgical correction and its results regarding an atypical case of syndactyly with clinodactyly and metacarpal aplasia. [ABSTRACT FROM AUTHOR]

Clinodactyly can be produced by a longitudinal epiphyseal bracket that generates either a 'delta' or 'trapezoidal' phalanx. We present a case with a 15-year follow-up of bilateral clinodactyly of the little finger, to emphasize a 'wait-and-see' approach as self-remodelling of his phalanges occurred during growth. [ABSTRACT FROM AUTHOR]

Silver–Russell syndrome (SRS) is a rare congenital abnormality. The incidence ranges from 1 in 3000 to 100,000 live births. It is characterized by low birth weight, asymmetric limb, relative macrocephaly, high forehead, small triangular-shaped face with small jaws, and dental malocclusion. The etiology of SRS is still unclear, but genetic alterations and family history have been attributed. The diagnosis of SRS is mainly based on physical characteristics and appearance. This article enlightens clinical versatility in dental features of SRS in two siblings and discusses the orthodontic management for dental malocclusion in the elder one.

Introduction: Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). In addition to these core component features, patients may also have other congenital anomalies. Case presentation: A single case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, is reported for the first time. A cytogenetic study reports an apparently normal male with a 46 XY karyotype, GTG bands, 400–550 band resolution, and extended exome sequencing without alterations. Esophageal plasty, hepatic-duodenal bypass in early childhood, and resection of the evanescent testicle with fixation of the contralateral testicle were performed at one year of age. We observed a satisfactory evolution after four years and four months of follow-up. Conclusion: In this report, we present this novel case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, which has not been previously reported in the literature.

Silver-Russell syndrome (SRS) is a rare congenital abnormality. The incidence ranges from 1 in 3000 to 100,000 live births. It is characterized by low birth weight, asymmetric limb, relative macrocephaly, high forehead, small triangular-shaped face with small jaws, and dental malocclusion. The etiology of SRS is still unclear, but genetic alterations and family history have been attributed. The diagnosis of SRS is mainly based on physical characteristics and appearance. This article enlightens clinical versatility in dental features of SRS in two siblings and discusses the orthodontic management for dental malocclusion in the elder one. [ABSTRACT FROM AUTHOR]

Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg. The malformation is mostly isolated but may occur together with other disorders or malformations such as synostosis, acro-syndactyly, cleft hand, clinodactyly, or polydactyly. Syndromic syndactyly can be observed in cases of Apert syndrome, Poland’s syndrome, Pfeiffer syndrome, and many others. A girl born in June of 2019 was diagnosed with congenital malformation of the right hand at birth—affecting the right middle, ring, and little fingers, respectively. After X-ray imaging, the fusion of the third and fourth proximal phalanges to a common metacarpal was identified, forming a unique diagnosis of clino-syndactyly with metacarpal aplasia. Surgical intervention was advocated for, including a wedge osteotomy to correct the synchondrosis at the phalangeal base and a dorsal flap to close the interdigital space created during the correction of the III and IV. fingers. A trapezoid flap for the release of the syndactyly of the IV and V. fingers was applied. The paper aims to present this surgical correction and its results regarding an atypical case of syndactyly with clinodactyly and metacarpal aplasia.

Camptodactyly and clinodactyly are most commonly considered just cosmetic defects, but they can pose a major diagnostic and therapeutic challenge, mainly because of their apparently similar clinical presentation. For years, experts have been arguing over definitions, descriptions, and therapeutic approaches to these deformities, with some favoring surgical approach, some advocating conservative treatment, while others are prone to use a combination of the aforementioned approaches. This article provides an overview of the current literature on two different entities, with emphasis on differences in clinical presentation and treatment modalities. This may improve the understanding and recognition of these deformities in children, and help the attending physician select the most appropriate therapy for the individual patient.

The Ascher or Laffe–Ascher syndrome is characterized by blepharochalasis, double lip and nontoxic thyroid enlargement. The syndrome is a rare manifestation and often remains undiagnosed. We report a case of Ascher syndrome in a 16 years old boy with double lip including upper and lower lip, blepharochalasis and an additional finding of mild clinodactyly which makes it a rare presentation. The article describes in brief an overview of the syndrome.

Russell-Silver syndrome (RSS) is a rare genetic disorder characterized by intrauterine growth restriction (IUGR), postnatal growth failure, and distinctive dysmorphic features. We present a case of a four-year-old male presenting with a slow growth velocity with a history of IUGR and surgical interventions, exhibiting classic RSS features. Laboratory investigations revealed low insulin-like growth factor 1 (IGF-1) and low growth hormone (GH) levels on stimulation tests. Clinical exome sequencing revealed a de novo mutation in the insulin-like growth factor 2 (IGF2) gene. Additionally, a variant of uncertain significance in the DHX37 gene was noted in the patient and the asymptomatic father. After genetic counseling, recombinant GH therapy was initiated. This case underscores the genetic complexity of RSS and highlights the importance of early diagnosis, genetic testing, and multidisciplinary management in optimizing outcomes for patients with RSS., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Boro et al.)

We report an image and two standard radiographs of the right hand characteristic and original of an association of postaxial polydactyly with clinodactyly of the right hand. This is a 19-year-old patient with a congenital deformity of her right hand. Facial and lateral radiographs of the hand show a distal phalanx (P2) of the right bifid ring finger, type I of the Wassel classification, causing enlargement of the tip of this finger, without enlargement of the nail. Associated with this is clinodactyly of the fifth finger by moderate angulation in the radio-ulnar plane, and of the middle finger by angulation of about 90 degrees in the opposite direction. Many authors prefer not to intervene in type I polydactyly because the result may be worse than initially. Treatment for clinodactyly varies depending on the severity of the disease, but may include close monitoring and surgery. In our case, the patient refused surgical management.

Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1‐4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3‐BDA4 phenotypes. [ABSTRACT FROM AUTHOR]

In Rubinstein–Taybi syndrome, patients may have a particularly severe clinodactyly of the thumb. We evaluated a new method for correction of these severe clinodactylies using non-vascularized toe phalanx transfer as a replacement for the abnormal delta phalanx. Results of the new technique are presented, together with those of an osteotomy technique. We retrospectively recorded the angle of the clinodactyly before and after surgery and at long-term follow-up of 11 osteotomies and five transfers in nine patients from 1990 to 2017. The pre-operative angle of clinodactyli was similar between the two groups with a mean of 59°. After surgery, the correction was equivalent (7° and 11°). At the last follow-up (7 and 18 years), the relapse of clinodactyly was 17° for osteotomies and 1° for phalanx transfers. We noticed growth of the transferred phalanx, resulting in an excellent thumb length. We conclude that non-vascularized toe transfer can be an effective correction of severe clinodactyly and may be more stable than osteotomy in the long-term. Level of evidence: IV [ABSTRACT FROM AUTHOR]

La correction du déficit cutané rencontré dans une clinodactylie est un aspect important de son traitement. L'utilisation du revêtement cutané d'un orteil dupliqué adjacent comme « doigt banque » peut être intéressante pour apporter des tissus de bonne qualité. Nous rapportons le cas d'un enfant présentant une duplication complète du 5e orteil associé à une clinodactylie. L'utilisation d'un lambeau hétéro-dactyle en îlot sensible prélevé sur l'orteil amputé permet la libération d'une bride plantaire sur l'orteil conservé. Le principe du doigt banque est majoritairement utilisé en chirurgie de la main dans les lésions traumatiques des doigts. Son application dans le traitement des clinodactylies à l'occasion de la régularisation d'une polydactylie est également intéressante car certains doigts ou orteils sont destinés à être amputés pour rendre une anatomie classique de pied à cinq doigts. Il est nécessaire pour la réalisation de ce type de lambeau sur des orteils malformatifs de vérifier l'existence d'un pédicule distinct viable de l'orteil amputé, qui ne peut être fait qu'en peropératoire. La chirurgie des malformations congénitales des orteils demande une parfaite gestion du capital cutané. L'utilisation d'un lambeau hétéro-dactyle en îlot sensible prélevé sur l'orteil à amputer selon le principe du « doigt banque » est une solution viable pour le traitement d'un flessum d'origine cutané rencontré devant une clinodactylie du doigt adjacent. The correction of cutaneous deficiency encountered in clinodactyly is an important aspect of its treatment. The use of the skin lining of an adjacent duplicated toe as a « spare-part » flap may be of interest in providing good quality tissue. We report the case of a child with complete duplication of the 5th toe associated with clinodactyly. The use of a heterodactyl flap taken from the amputated toe allows the release of a plantar cutaneous flange of the preserved toe. The concept of « spare-part » flap is mainly used in hand surgery in traumatic lesions of the fingers. Its application in the treatment of clinodactyly on the occasion of the regularization of a polydactyly is also interesting because some fingers or toes are intended to be amputated to render a classical anatomy of five-toed foot. It is necessary for the realization of this type of flap on malformative toes to verify the existence of a distinct viable pedicle of the amputated toe, which can be done only intraoperatively. The surgery for congenital malformations of the toes requires perfect management of the skin capital. The use of a « spare-part » toe flap taken from the toe to be amputated is a viable solution for the treatment of a cutaneous flessum encountered in a clinodactyly of the adjacent finger. [ABSTRACT FROM AUTHOR]

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Multiple epiphyseal dysplasia (MED) is characterized by abnormal bone and cartilage development particularly affecting epiphysis of long bones. Individuals with MED present during childhood presents with hip pain, knee pain and waddling gait. The autosomal recessive MED is differentiated from the dominant type by the presence of hands, knees and feet malformations with scoliosis. We present here, a case of autosomal recessive MED, an eleven and half years old boy who presented with pain in knees, difficulty walking, abnormal fingers and abnormal toes. The radiographs of hands, knees and pelvis were suggestive of an abnormal epiphyseal development. After diagnosis, patient was counseled and he was advised analgesics and different exercises.

Toe clinodactyly is often owed to the presence of a longitudinal epiphyseal bracket. We developed middle phalangectomy as a simple surgical solution for correction of toe clinodactyly because of longitudinal epiphyseal bracket in childhood. Ten children (ages 1–5 years) were operated on by the same surgeon between October 2007 and May 2012 (n = 15 feet). The same surgical technique was used in all the cases. A clinical evaluation included the appearance of the foot, the parents' level of satisfaction, and the presence or absence of bothersome symptoms (such as pain and discomfort when wearing footwear). A radiological evaluation under weight-bearing conditions enabled us to 1) rate the achievement of a natural-looking toe parabola and 2) detect the recurrence of clinodactyly (defined as an angle of >40° between 2 adjacent phalanges). The mean follow-up period was 5.4 (range 3.3 to 8.1) years. Nine sets of parents (90%) were satisfied with the results of the procedure. None had difficulties wearing boots, and only 1 child (10%) had residual pain during sports activities. Clinodactyly recurred in 3 feet in 3 patients (20% of feet, 30% of patients). Two (20%) of the latter patients underwent repeat surgery and achieved a lasting, satisfactory outcome. Middle phalangectomy is an appropriate procedure for the treatment of toe clinodactyly because of longitudinal epiphyseal bracket in young children. However, the patients' long-term outcomes (notably once bone growth has ended) must be assessed. [ABSTRACT FROM AUTHOR]

An uncommon type of epidermal nevus characterized by hyperpigmented hyperkeratotic bands following a Blaschko-linear pattern and generalized follicular hyperkeratosis were observed in a 17-year-old male patient who additionally showed tufted hair folliculitis on the scalp and clinodactyly of the fifth finger of both hands. The combination of epidermal nevus with skeletal abnormalities was first described by Gobello et al. [Dermatology 2000;201:51-55] as a new epidermal nevus syndrome that was named after the first author of this work. Our case shows identical clinical and histopathological features and represents the second case of this rare syndrome reported in the literature.

Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

Aarskog–Scott syndrome is an X-linked inherited disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies. Although ophthalmic, dental, and cardiac defects are rarely seen. The present case report is of a 10-year-old boy with Aarskog syndrome who born with third degree of consanguineous marriage, delivered by caesarean section. The boy had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly, single palmar crease, shawl scrotum. The patient was on growth hormone (GH) therapy and responding well. Along with GH therapy, the patient was on rehabilitation program and his family was undergoing genetic counseling.

Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). In addition to these core component features, patients may also have other congenital anomalies. A single case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, is reported for the first time. A cytogenetic study reports an apparently normal male with a 46 XY karyotype, GTG bands, 400–550 band resolution, and extended exome sequencing without alterations. Esophageal plasty, hepatic-duodenal bypass in early childhood, and resection of the evanescent testicle with fixation of the contralateral testicle were performed at one year of age. We observed a satisfactory evolution after four years and four months of follow-up. In this report, we present this novel case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, which has not been previously reported in the literature. • A unique case featuring an association of choledochal cyst type 1, type III esophageal atresia, evanescent testicle and clinodactyly. • Surgical exploration with cholangiography is the gold standard to differentiate between choledochal cyst and type 1 cystic biliary atresia in newborns. • Hepaticoduodenal bypass in early childhood is an effective management strategy for choledochal cysts. [ABSTRACT FROM AUTHOR]

Giles Kagmeni,1,2 Yannick Bilong,2 Cedric Mbogos,2 Lucienne Bella Assumpta2 1University Teaching Hospital, Yaoundé, Cameroon; 2Eye Department, University of Yaoundé 1, Yaoundé, Cameroon Background: Peters’ anomaly (PA) is a rare form of anterior segment dysgenesis characterized by corneal opacity with varied degree of anterior chamber affection with associated defects in the posterior layers of the cornea. Case presentation: We report the case of a 3-month-old male infant with bilateral corneal opacity since birth who was transferred from the pediatric unit for further ophthalmic care. He was diagnosed with PA with subsequent systemic-associated malformations including craniofacial defects and skeletal defects. He was managed minimally with topical mydriatics and antiglaucomatous drugs. Conclusion: PA is an inevitable cause of blindness in developing countries due to poor infrastructure and limited resources. Keywords: congenital corneal opacity, polydactyly, camptodactyly, clinodactyly

Examination of the four saints in Filippino Lippi's Magrini Altarpiece (c. 1482) shows that they all have hand deformities of various kinds. The two saints on the viewer's left, St Rocco and St Sebastian, are portrayed as young, aristocratic men. Those on the viewer's right, St Jerome and St Helena, are depicted as a much older man and a young woman, respectively. It is of interest that the two young men have more significant deformities, while the older man and the young woman are less severely affected. The realism of the depiction of the young men's hands makes it probable that the artist deliberately chose models with arthritic deformities or else painted the hands from memory after having observed other arthritis sufferers. As a more speculative concluding note, it is also suggested, on the basis of comparisons with other paintings from the same period, that the artist may have chosen to depict the young male saints' hands in this way to emphasise both their aristocratic standing and the role of suffering and martyrdom in their traditional biographies. [ABSTRACT FROM AUTHOR]

A fifteenth-century Florentine altarpiece painted by the Pollaiuolo brothers, Antonio (1433-1498) and Piero (1443-1496), shows three saints with evident deformities of the hands and feet. The pathologies concerned are tentatively identified, and various rationales for their presence in the painting are discussed. Of particular importance is the location of the altarpiece in a chapel which houses the tomb of the Cardinal of Portugal, Prince James of Lusitania (1433-1459). It is argued that both the artistic style of the day and the religious symbolism of the Cardinal's funeral chapel contributed to the artists' decision to portray the saints with deformities. An unnatural curvature of the fifth finger was apparently considered elegant in fifteenth-century paintings, and the depiction of bare feet with hallux valgus gave them a shape which approximated and could have been caused by fashionable pointed shoes. But in addition, deformities in religious art could be symbolic of suffering and martyrdom, a theme which the Cardinal's chapel emphasised in a number of ways. It is suggested therefore that the Pollaiuolo altarpiece reconciles these two disparate factors, portraying genuine deformities in a way that was artistically stylish and symbolically meaningful. [ABSTRACT FROM AUTHOR]

Background: Traumatic injuries are the most common cause of finger amputations. Therapeutic amputations are less common but may be essential in some patients with congenital malformations of digits. Case description and methods: A 21-year-old female patient reported for esthetic management of malformed middle and ring finger of right hand. Examination revealed clino-syndactyly with unusual dermatoglyphics. She was successfully rehabilitated by collaborative efforts of plastic surgeon and prosthodontist, by therapeutic amputation with surgical recontouring and fabrication of somatoprosthesis. Findings and outcomes: The patient was satisfied with esthetics of the prosthesis and somatoprosthesis improved function. At 6-month recall, no alterations or repair of prosthesis was required. Conclusion: Individualized treatment planning with integration of modifications involving a multidisciplinary approach is required to meet needs of patients with congenital digital malformations. The duplication of unusual dermatoglyphics made the prosthesis more realistic. Clinical relevance An individualized treatment plan with modifications to conventional techniques is required to cater to rehabilitative needs of patients with congenital digital malformations. [ABSTRACT FROM AUTHOR]

Andersen-Tawil syndrome (ATS) is an autosomal dominant disorder, characterized by the triad of muscular paralysis, skeletal, and craniofacial anomalies and prolonged QT interval on echocardiogram with a tendency toward malignant ventricular arrhythmia. Although the patient may express one or two of the three components of triad, hypothyroidism is an endocrine disorder resulting in the delayed eruption of teeth, defective mineralization of bone and teeth, and speech and hearing deformity. Here, we report a case of ATS with hypothyroidism. To the best of authors' knowledge, no such association has been reported in the literature. [ABSTRACT FROM AUTHOR]