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Background: Primary and revision surgery for complete complex congenital syndactyly (CCCS) of the hand carries a risk of complications such as web maceration, which can result in flap or graft loss and alter the final appearance. No consensus emerges from the scant published data on postoperative care after CCCS surgery. The objective of this study was to assess the role for temporary external fixation in stabilising the commissure and facilitating surgical wound care., Hypothesis: Using external fixation after CCCS release facilitates postoperative wound care and decreases the complication rate., Material and Methods: Eighteen patients requiring primary CCCS surgery or revision CCCS surgery due to adhesions or web creep were included in a single-centre retrospective study. After release, an external fixator made of Kirschner pins was installed to temporarily immobilise the inter-phalangeal joints. The dressing was changed every 3 days for 3 weeks, and the external fixator was then removed. The parents and nurses completed questionnaires that used 0-10 point scales to assess ease and duration of dressing changes and perceptions and apprehensions experienced by parents and nurses, as well as pain by patients, during dressing changes., Results: No patient experienced maceration or failure of a graft or flap. Pin site discharge was noted in 1 patient and resolved fully after pin removal. Pain intensity was estimated at 4.2/10 during the first dressing change and 1.3/10 during the last dressing change. In the parents, apprehension was 9.6/10 and 5.1/10 during the first and last dressing changes, and stress was 8.1/10 and 4.1/10, respectively. Dressing change difficulty was rated 1.1/10 at the first and 0.9/10 at the last dressing change. Dressing change duration decreased from 13 to 10minutes., Conclusion: These encouraging results support temporary commissure stabilisation by an external fixator to decrease postoperative complication rates and facilitate dressing changes after CCCS release., Level of Evidence: IV, retrospective observational study., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Although congenital hand anomalies associated with finger nubbins may be produced by amniotic band disruption sequence (ABDS), symbrachydactyly should be considered in the differential diagnosis. ABDS usually affects more than one limb but symbrachydactyly largely is limited to one upper extremity, and has five distinct clinical presentations: short-fingered, atypical cleft, monodactylous, peromelic, and a forearm proximal transverse deficiency. This article discusses the diagnosis of symbrachydactyly compared with ABDS and outlines plans for managing patients with symbrachydactyly.

Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations. He was born with complete bilateral cleft lip and complete cleft palate on the left side and incomplete cleft palate on the right side and syngnathia with 4 fibrous bands between the mandibular arch and the maxilla arch on the right side, which affected the opening of the mouth. The case of our patient is very interesting because there have been few reported patients affected by popliteal pterygium syndrome with syngnathia.

FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies.

Patients with Van der Woude syndrome typically present with cleft lip, cleft lip and palate, or with cleft palate only. In contrast to non-syndromic cleft lip and/or palate, Van der Woude syndrome typically is characterized by bilateral, paramedian lower-lip pits. Popliteal pterygium syndrome shares features with Van der Woude syndrome, but, in addition, is characterized by a popliteal pterygium, genital anomalies, cutaneous syndactyly of the fingers and the toes, and a characteristic pyramidal fold of skin overlying the nail of the hallux. In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. We present a three generation family with tremendous intrafamilial phenotypic variability. The newborn index patient had a diagnosis of Popliteal pterygium syndrome. The mother presented with a classic Van der Woude Syndrome, while the maternal grandfather had Van der Woude Syndrome as well as minor signs of Popliteal pterygium syndrome. In all three affecteds the known pathogenic mutation c.265A>G, p.Lys89Glu in IRF6 was identified. While inter- as well as intra-familial variability has been described in IRF6-related disorders, the occurrence of a typical Van der Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it., (Sociedad Argentina de Pediatría.)

Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, syndactyly, seizures, developmental delay, and autism. Timothy syndrome type 1 is caused by a recurrent de novo mutation (p.Gly406Arg) in exon 8A of the L-type calcium channel gene CACNA1C. Timothy syndrome type 2 was originally reported to be associated with a more severe cardiac phenotype but without syndactyly. Timothy syndrome type 2 is caused by mutation in an alternatively spliced exon 8 of the CACNA1C gene. Other mutations in CACNA1C are also reported with long QT syndrome with and without syndromic features overlapping that described in Timothy syndrome. The purpose of this report is to describe the presentation, physical features and natural history of a 4-year-old girl with Timothy syndrome type 2 due to the recurrent p.Gly406Arg mutation in exon 8 of CACNA1C. She has similar facial features to Timothy syndrome type 1 without syndactyly. She is developmentally delayed without autism. She recently had her first episode of torsade de pointes associated with febrile illness and hypoglycemia. The findings in this case provide further information about the phenotype and natural history of CACNA1C exon 8 mutation and together with previously reported cases of Timothy syndrome question whether the clinical and molecular distinction between Timothy syndromes types 1 and 2 remains clinically useful., (© 2015 Wiley Periodicals, Inc.)

Purpose: To describe 2 simple objective clinical methods of measuring the web position between fingers and to determine their intra-observer and inter-observer reliabilities., Methods: Two observers examined the second, third, and fourth web spaces on both hands of 30 adult healthy volunteers. The web index measured the web height as a relative ratio to constant anatomical landmarks on both fingers subtending the web. The dorsal web index took reference from the distance between the metacarpophalangeal and proximal interphalangeal joints, whereas the palmar web index was measured in relation to the distance between the most proximal basal digital and proximal interphalangeal joint creases. The intraclass correlation coefficient was used to determine intra-observer and inter-observer reliability., Results: Intraclass correlation coefficient values for intra-observer and inter-observer reliability were greater than 0.80, indicating excellent agreement. There was no statistically significant difference between the dorsal or palmar measurement methods in terms of reliability., Conclusions: The dorsal or palmar measurement method may be reliably used in healthy adults to establish a web index that describes the web position. The palmar method is considered easier to perform., Type of Study/level of Evidence: Diagnostic III., (Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively. In this study, we report mutations in six pedigrees with children affected with PPS or BPS. Using a combination of Sanger and exome sequencing, we report the first case of an autosomal recessive popliteal pterygium syndrome caused by homozygous mutation of IRF6 and the first case of uniparental disomy of chromosome 21 leading to a recessive disorder. We also demonstrate that mutations in RIPK4 can cause features with a range of severity along the PPS-BPS spectrum and that mutations in IKKA can cause a range of features along the BPS-Cocoon spectrum. Our findings have clinical implications for genetic counseling of families with pterygia syndromes and further implicate IRF6, RIPK4, and CHUK (IKKA) in potentially interconnected pathways governing epidermal and craniofacial development., (© 2015 Wiley Periodicals, Inc.)

Introduction: Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2., Case Presentation: A one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation of the IRF6 gene., Conclusions: We report on the first description of a Moroccan popliteal pterygium syndrome patient. This diagnosis allowed us to provide an appropriate course of management to the patient and offer genetic counseling to his family.

Unlabelled: We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy., Conclusion: This report illustrates the potential for airway compromise in PPS patients and the need for thorough neonatal airway assessment.

Unlabelled: Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb-polysyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb., Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.

Macrodystrophia lipomatosa is a rare, non-hereditary form of congenital local gigantism characterised by enlargement and hypertrophy of all mesenchymal tissue components with a disproportionate increase in adipose tissue. This form of macrodactyly has been reported in association with other anomalies including polydactyly, brachydactyly, syndactyly, and symphalangism. We describe a previously unreported case of bilateral upper extremity macrodystrophia lipomatosa with syndactyly in a 23-month-old boy. In this report, we emphasise the importance of establishing a diagnosis with imaging and review the described surgical approaches to treating this difficult condition.

The authors describe a case of Cenani-Lenz syndrome, in a 3-month-old girl of non-consanguineous parents of Afghani origin. Digital anomalies consist of sandactyly of the fingers of both hands, disorganised phalanges more severe involvement of the left side without radioulnar synostosis. Although our patient lacks facial dysmorphic features reported previously. The cases of patients with CLS need to be carefully evaluated and described to determine if there is distinctive accompanying facial phenotype.

The reconstruction of the third web space in Apert syndactyly often involves pedicled groin flaps to resurface exposed distal (and sometimes proximal) phalanges. We report a case in which the right-hand third web space was reconstructed with traditional pedicled groin flaps and the left hand with the Integra(®) regenerative skin template. We report that both left and right hands achieved similar outcomes, but the hand reconstructed with groin flaps required debulking, whilst the hand reconstructed with Integra was easier to care for., (Copyright © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

Objective: To identify potential mutation responsible for synpolydactyly (SPD) in a large Chinese kindred and to offer genetic counseling and prenatal diagnosis for the members of the family., Methods: All family members were examined clinically, and blood samples were obtained for linkage analysis and mutation screening. Ultrasound examinations were conducted at 16-21 weeks. Amniotic fluid sample was obtained by ultrasound-guided amniocentesis at 18 weeks of gestation., Results: A large kindred affected with SPD was identified and characterized. With two short tandem repeat (STR) markers (D2S1238 and D2S1245) flanking the HOXD13 gene, the disease was mapped to 2q31. A heterozygous 27 bp expansion within the imperfect GCN triplet-repeat of exon 1, c. 184_210dup, was identified. The mutation resulted in a gain of 9 alanine residues between the 14th and 15th alanine of the normal 15-amino-acid-long polyalanine tract. On ultrasound examination, all fingers and toes of the fetus appeared to be normal. Linkage analysis and mutation detection confirmed that the fetus did not inherit the mutant allele from his affected mother., Conclusion: HOXD13 gene mutation was responsible for the SPD phenotype in this family. Accurate prenatal diagnosis of SPD was achieved with combined ultrasound and molecular analysis.

Macrodystrophia lipomatosa is a rare disease that causes congenital local gigantism of part of an extremity, which is characterised by an increase in all mesenchymal elements, particularly fibroadipose tissue. This is the first report to our knowledge of a case of histologically confirmed bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas.

Purpose: Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. Major associated problems include neurologic, ophthalmologic, dental, and other skeletal abnormalities. The purposes of this study were to investigate the incidence of the reported associated conditions in the families of our patients with ODDD, correlate them with the severity of syndactyly, and provide better counseling with more accurate information for these patients and families., Methods: We reviewed medical records from Texas Scottish Rite Hospital for Children from 1980 to 2009 to identify patients with ODDD. These patients and families were invited to return for a detailed medical and family history and physical examination documenting hand, foot, eye, dental, and facial findings., Results: A total of 73 pediatric patients from 47 families were diagnosed with ODDD, and 38 individuals in 31 families agreed to participate in the study. We observed bilateral syndactyly in 32 patients, with symmetric involvement in 31 of these. Abnormalities of the shape and size of the middle phalanx of the small finger were common. Ophthalmological findings were present in 31 and dental abnormalities identified in 33 patients. Neurologic findings likely related to ODDD were found in 11 patients. There appeared to be an association between the severity of syndactyly and the severity of dental and urologic findings, but not ophthalmologic or neurologic findings such as paraparesis or cognitive deficits., Conclusions: We found a 29% incidence of neurologic manifestations in patients with ODDD. In addition, associated ophthalmologic, dental, and developmental conditions are frequent and a heightened awareness will allow appropriate referrals for patients with ulnar-sided syndactyly in ODDD., Type of Study/level of Evidence: Prognostic IV., (Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome (EEC) is a rare autosomal dominant genetic disorder, with variable expression and penetrance. This congenital disorder is associated either with a mutation in chromosome 7 or with a translocation between chromosomes 7 and 9, reflected primarily in the abnormalities listed in its name. This case report describes a 35-year-old male with syndromic stigmata since birth and no cleft lip/palate. Four relatives are also affected by the condition.

Syndactyly is one of the most common congenital anomalies of the hand. It can be isolated or associated with systemic syndromes. Surgical treatment is performed between the ages of six and 18 months depending on the type and extent of the malformation. Commissure construction is achieved using local flaps. Direct closure of the lateral sides of the digits is possible in many cases. In complex cases, and/or when adjacent web spaces are involved, full-thickness skin grafts remain useful. Functional and cosmetic results are usually excellent in simple cases. In complex cases, postoperative prognosis depends on the severity of bone, joint and tendons abnormalities.

Symbrachydactyly is literally defined as a combination of short fingers with syndactyly. Blauth and Gekeler described four types of symbrachydactyly, ranging from simple shortness of middle phalanges to complete absence of digital rays. In type I (short finger) function is quite normal and syndactyly release is usually the only procedure needed. In type II (cleft hand), presence of a thumb and at least one ulnar finger allows pinch function. Surgical treatment, when needed, consists in separation of webbed fingers, resection of nonfunctional digital stumps, or finger translocation. In type III (monodactyly) all long fingers are absent. Pinch function can be created between the thumb and a toe transfer in ulnar location. Bone lengthening is an alternative procedure to create a pincer. Surgery is not always indicated in type IV (peromely) as function can only be restored if active motion is already present at wrist or carpometacarpal levels.

Purpose: A relationship between symbrachydactyly and transverse deficiency has been suggested but has not been critically investigated or established by scientific studies. The purpose of this investigation was to evaluate a large group of patients with transverse deficiency of the forearm for clinical and radiologic features typically seen in patients with symbrachydactyly., Methods: A retrospective review of the medical records of 291 patients with a diagnosis of upper-extremity transverse deficiency at the level of the forearm was performed. Patient charts, photographs, and radiographs were evaluated for manifestations of symbrachydactyly; specifically, we clinically assessed for the presence of nubbins and skin invaginations and radiologically assessed for hypoplasia of the proximal radius and ulna., Results: Two hundred seven patients had soft tissue nubbins at the end of their amputation stumps including 38 with the additional finding of skin invagination at the distal end. Another 36 extremities had a skin invagination alone. Twenty-nine of the extremities without nubbins or skin invaginations had hypoplasia of the proximal radius and ulna. Thus, 272 of the 291 extremities with transverse deficiency had manifestations of symbrachydactyly., Conclusions: The majority of patients with the diagnosis of transverse deficiency have soft tissue nubbins, skin invaginations, or hypoplasia of the proximal radius and ulna at the end of their amputation stumps. These clinical and radiologic features support the concept that transverse deficiency through the forearm represents a proximal continuum of symbrachydactyly.

Acro-cardio-facial syndrome (ACFS) is a very rare genetic syndrome. Only 5 patients have been reported in the literature so far. A female neonate presented with limb abnormalities, cleft palate and congenital heart disease was diagnosed as ACFS. Her cranial magnetic resonance imaging revealed a huge cerebral neuroepithelial cyst. To our knowledge, this is the first case of ACFS in the literature associated with a neuroepithelial cyst in the brain.

Pediatric, orthopedic, plastic, and hand surgeons perform the surgical correction of syndactylism. It is sometimes forgotten, however, that syndactylism can be part of a syndrome. The components of such a syndrome can each be life threatening. A 7-month-old boy was hospitalized for correction of cutaneous syndactylism. The mother claimed that, with the exception of the syndactylism, her son was healthy. However, review of the admission documents found that the family physician suspected Gorlin Goltz syndrome. A preoperative echocardiography showed 3.9-cm intramural tumor in the wall of the left ventricle. Electrocardiography documented ventricular tachycardia. Because of the danger of life-threatening malignant ventricular tachycardia, the tumor was resected. Before the resection, cardiac transplantation was considered because of the size of the tumor. Histologic examination found a fibroma. When observing syndactylism, one must always be aware of the possibility of a syndromic disease. It is particularly important that screening investigations, including electrocardiography and echocardiography, are performed before surgical treatment.

The typical cleft hand is now distinguished from symbrachydactyly. This review of the surgical treatment of 108 hands in 63 patients treated over a 28-year period concentrates upon the technical principles of surgical correction. The key to these reconstructions is a wide incision which extends from the ulnar side of the cleft around the malpositioned index finger to the thumb. This wide exposure provides clear identification of all anatomic structures within the palm. There are no tenuous flaps with narrow random pedicles. These difficult surgical corrections may often include index transposition, metacarpal and/or phalangeal osteotomies, joint releases, phalangeal ostectomies, preservation of the adductor pollicis muscle, first dorsal interosseous muscle release, syndactyly separation(s) and thumb duplication correction. Following reposition of all skeletal structures the dorsal and palmar full-thickness flaps are easily contoured to create a satisfactory first webspace. Outcomes data shows that although the pinch and grip remain weak, these hands are quite functional. It is important that the repositioned index ray not interfere with gripping and precision maneuvers between the mobile thumb and the ulnar two digits (ring and small) of the hand.

The delta phalanx is a rare congenital skeletal anomaly. An abnormal C-shaped epiphysis is usually responsible for a progressive angular digital deformity observed either in hands or feet. Solitary delta phalanges are usually described. We report a case of bilateral congenital hand malformations featuring a triplet of delta phalanges affecting a single digit on one hand, together with a concealed central polydactyly on the other.

An 18-year-old Japanese boy and a 10-year-old Chinese boy both had nearly complete cutaneous syndactyly of the fingers and toes, six diphalangeal fingers on each hand, six toes on each foot (except the right foot of patient 2), and short, deformed, and on occasion partially fused metacarpals and metatarsals. Neither had other malformations and were of normal intelligence. The accessory toes in patient 1 were mesoaxial, each situated between the hallux and the third toe, whereas those in patient 2 were postaxial. In view of these findings, the disorder in 2 individuals is likely to represent a hitherto undescribed type of nonsyndromic synpolydactyly.

We performed a retrospective review of finger syndactyly releases at Shriners Hospital for Children, Houston Unit, between January 1983 and January 1993. This study was performed in an attempt to compare the long-term postoperative function in patients after release of syndactyly resulting from Poland's syndrome with that in patients with idiopathic forms of syndactyly. Only patients with one involved hand were included in this study. The contralateral hand was used as a control. Twenty-seven patients with only one hand involved underwent syndactyly release during this period. Of these, 13 patients who underwent a total of 30 syndactyly releases were available for evaluation. For each patient, the type of syndactyly was determined. Each patient was subjected to a detailed physical examination and participated in occupational-therapy modalities. We noted statistically significant differences in function between operated-on and control hands in the Poland's group, whereas operated-on hands affected with idiopathic forms of syndactyly did not demonstrate significantly different function compared with contralateral controls. These data suggest that functional deficits in hands affected by Poland's syndrome are attributable to more than the syndactyly alone. Hands affected by idiopathic forms of syndactyly are likely to have little postoperative functional deficit.

We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, abnormal face and uncombable hair. A younger sib who died soon after the birth was probably also affected.

Objectives: The purpose of this study was to characterize a possible association between long QT syndrome and syndactyly., Background: Long QT syndrome causes syncope and sudden death from ventricular arrhythmias. Syndactyly is a developmental disorder that causes webbing of the hands and feet. Both disorders can be inherited as isolated, autosomal dominant traits, but an association between them has not been established., Methods: We identified three children with long QT syndrome, atrioventricular (AV) block and simple syndactyly. Phenotypic and laboratory data were obtained from families, attending physicians and medical records., Results: All patients had bilateral cutaneous syndactyly and were diagnosed with long QT syndrome within the 1st 2 years of life. Structural heart disease, particularly a patent ductus arteriosus, was present in all three patients. Analysis of electrocardiograms showed marked prolongation of the QT intervals with rate-corrected QT intervals of 633, 628 and 680 ms, respectively. Transient AV block was also noted. Two of the three children died suddenly despite treatment with beta-adrenergic blocking agents and permanent pacing., Conclusions: We postulate that these children have a new form of long QT syndrome associated with syndactyly and a high risk of sudden death. The association of syndactyly with long QT syndrome may provide insight into the mechanisms underlying both disorders. Patients with syndactyly should be evaluated for the presence of long QT syndrome, and if it is found, aggressive treatment may be warranted.

A palmar dermatoglyphic study of 392 hands of patients with congenital hand anomalies was performed to evaluate the number of digital triradii, the position of an axial triradius, the incidence of hypothenar patterns, the pattern intensity, and the main line index. Remarkable variations, which are rare in normal hands, were frequently observed. The results deviated from the normal range in cases of ectrodactyly and syndactyly, but were within the normal range in cases of polydactyly. The dermatoglyphics associated with each type of hand anomaly was characteristic and discriminative. Dermatoglyphics was also helpful in evaluating the function of the hand, and in estimating the time of the damage to the hand in embryogenesis.

Hypothalamic hamartomas are congenital malformations. The association between hypothalamic hamartomas and other dysplasias, including polydactyly, is known to be a neonatal lethal syndrome. We report on two patients (mother and son) with asymptomatic large hypothalamic hamartomas and polysyndactyly. The relationship of the patients suggests an autosomal dominant transmission.

Introduction: The SC syndrome is relatively common among craniosynostosis syndromes, and it is transmitted as an autosomal dominant trait. The syndrome was first recognized and described by S. and C. (1931-1932), but that most extensive discussion of the disorder was published by Pantke et al. in 1975. He systematically described the most and the least common marks of that syndrome., Clinical Case: We thought it right to report a case we met and observed, because together with the S.C. syndrome's marks, there was the presence of multiple peg-shaped teeth. This peculiar mark is common to many orger craniosynostotic syndromes, but, we think it has never been described in "acrocephalosyndactyly type three" clinical cases. As a matter of fact, in literature, they have described in that syndrome, only lateral incisors shape anomalies., Conclusions: Even if in our patient the syndrome had a poor expressivity (there were scarce cranio-facial anomalies), and even if it came out there was no familiarity, it was peculiar because of the presence of multiple peg-shaped teeth. Besides, we think it is important to recognize that syndrome (which diagnosis is today still clinical because of the absence of peculiar laboratory aids), in such a way as to advice the female patient and to suggest her, in case of pregnancy, to go to a Uman Genetic Service for a an advice.

Twenty-two fingers of 13 patients had dysplastic nails. Four types of congenital onychodysplasia of the index fingers such as anonychia, rudimentary, split rudimentary (polyonychia), and micronychia were found in five, three, eight, and six fingers, respectively. Narrowing at the distal end of the affected distal phalanx (lack of the cresent-shaped cap), and a Y-shaped bony projection were characteristic features seen on x-ray films. There were no associated ectodermal abnormalities. Syndactyly was a relatively common associated hand anomaly. Some cases of congenital onychodysplasia of the index fingers were inherited. These findings suggest that impediments to the membranous ossification center can lead to a dysplastic crescent-shaped cap with nail anomalies.