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PubMed2006

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain and midface in humans. The aetiology of HPE is highly heterogeneous and includes both environmental and genetic factors. Here we report on a boy with mild mental retardation, lobar HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial dysmorphisms. Genome-wide tiling path resolution array based comparative genomic hybridisation (array CGH) revealed a de novo copy-number gain at 5q35.1 of 1.24 Mb. Additional multiplex ligation-dependent probe amplification screening of a cohort of 31 patients with HPE for copy-number changes at the 5q35.1 locus did not reveal any additional genomic anomalies. This report defines a novel 1.24 Mb critical interval for HPE and preaxial polydactyly at 5q35.1. The duplicated region encompasses seven genes: RANBP17, TLX3, NPM1, FGF18, FBXW11, STK10, and DC-UbP. Since FBXW11 is relatively highly expressed in fetal brain and is directly involved in proteolytic processing of GLI3, we propose FBXW11 as the most likely candidate gene for the HPE and prexial polydactyly phenotype. Additional research is needed to further establish the role of genes from the 5q35.1 region in brain and limb development and to determine the prevalence of copy number gain in the 5q35.1 region among HPE patients.

Adolescent↗
PubMedDate not supplied

Pedal polydactyly: an overview with case report.

Polydactyly is a fairly common congenital condition of the foot, and is characterized by supernumerary digits and/or metatarsals. It may be an isolated condition or part of a congenital syndrome. Polydactyly is generally classified into three major groups: medial ray (preaxial), central ray, and lateral ray (postaxial). A review of polydactyly and an unusual case report of central ray involvement and its surgical correction are presented.

Humans↗
PubMed2000

Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, polydactyly, cardiac and renal anomalies. Linkage analysis has localized the disease gene to chromosome 4p16, with the markers at loci D4S827 and D4S3135 defining the centromeric and telomeric limits of the linked interval, respectively. There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum. We performed linkage analysis using markers from the EVC region in seven families manifesting either ATD or SRP type III. In two of the families, one segregating ATD and one SRP kindred, linkage of the phenotype to the EVC region was excluded. In the other five families linkage of the phenotype to the EVC region could not be excluded, but the families were too small for linkage to the region to be established. The exclusion of the EVC region in ATD and SRP III families suggests that locus heterogeneity exists within the short-rib dysplasia (with and without polydactyly) group of disorders.

Asphyxia↗
PubMed2002

An unusual case of preaxial polydactyly of the hands and feet: a case report.

An unusual case of polydactyly of the hands and feet is described. The ulnar 4 digits of both hands and the outer 4 digits of both feet appeared normal, and the extra digits were on the radial side of the hands and on the medial side of the feet. The pattern of polydactyly did not fit any of the well-known deformities associated with radial digital duplication such as thumb polydactyly, mirror hand, or duplicated (multiple) hands. The harmonious deformities of the hands and feet suggest a genetic alteration to the development of all 4 limb buds, but the case did not fit any of the known syndromes that have high-level preaxial digital duplication of the hands and feet.

Fingers↗
PubMed1997

Lateral ray polydactyly: a case of duplicated metatarsal with normal phalanges.

Lateral ray polydactyly of the foot is morphologically classified on the basis of the external appearance and the anatomic patterns of bony structures. Classification is difficult when the level of duplication is not apparent. We encountered a case of a duplicated metatarsal with no duplication of phalanges. The anomaly was considered to be a case of polydactyly because there were supernumerous metatarsals. On the basis of embryological failure, limb malformations are classified into several categories, and polydactyly belongs to that of duplication. There are, however, some malformations that are difficult to classify clearly. We considered our case to be a result of duplication followed by fusion of the digits.

Child, Preschool↗
PubMed1998

An unusual case of polydactyly of the thumb.

We present an unusual case of polydactyly of the thumb. The patient, despite having a fully developed nail bed, had a duplication at the metacarpophalangeal level consisting of a single bony phalanx. The Wassel classification of polydactyly, which is the most commonly cited classification scheme, does not include this particular anomaly. In addition, there has been no reference to this type of polydactyly in the literature.

Bone Wires↗
PubMed2006

Reconstruction of radial polydactyly.

The spectrum that encompasses radial polydactyly can be categorized by the Wassel classification. Reconstruction of radial polydactyly depends on the size and quality of each of the thumbs. Most commonly, the ulnar thumb is larger and is maintained, whereas the smaller radial thumb is excised. In a Wassel type 4, after the redundant thumb is excised, the remaining thumb is centralized and aligned, and the radial collateral ligament of the maintained thumb is reconstructed. Other types of radial polydactyly are more complicated and require more complex reconstructions.

Humans↗
PubMed2004

An unusual and nonclassified central polydactyly of the foot.

Central-type, 8-toed polydactyly is a distinctly rare congenital foot anomaly. In this report, a new subtype of the metatarsal type of the central ray polydactyly of the foot is presented. This includes a triplication, one of which is Y-shaped of the second metatarsal and 8 toes. In the literature, polydactyly of the foot has been usually operated during childhood after walking age. We performed the surgery at 6 months of age. After ray amputation of the extra toes, we reapproximated the muscle pieces that remained on the original first and second metatarsals and repaired the transverse metatarsal ligament. Despite the early surgery, we did not encounter any problems intraoperatively and postoperatively.

Humans↗
PubMed2005

Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia.

Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental retardation. Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot. His clinical course was different from typical patients with polydactyly, especially in the aspect of walking development. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia.

Child, Preschool↗
PubMed2001

The number and distribution of Merkel cells in rudimentary polydactyly.

BACKGROUND: Rudimentary polydactyly histologically reveals a marked neural proliferation in the dermis and a large number of Meissner corpuscles in the dermal papillae. OBJECTIVE: Our study was performed to determine whether this neural proliferation is related to Merkel cells. METHOD: Using an antibody to cytokeratin 20, we examined the number and distribution of Merkel cells in 5 cases of rudimentary polydactyly, including an immature case without Meissner corpuscles. RESULTS: Only the case without Meissner corpuscles had a markedly large number of Merkel cells and some dermal Merkel cells. CONCLUSION: The normal number of Merkel cells in the mature cases suggests that abundant Merkel cells may appear at first and disappear after the development of neural proliferation. Merkel cells may be associated with the generation of cutaneous nerve plexus and nerve endings in the upper dermis, and possibly with the development of Meissner corpuscles, at the early stage of rudimentary polydactyly.

Adult↗
PubMedDate not supplied

Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).

Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with different prenatal sonographic and postnatal clinical, histological and radiologic findings. SRPS type 1 (Saldino-Noonan) and type 3 (Verma-Naumoff) are very similar and frequently get mixed. In this report, we present a case of SRPS with hydrops, thoracic hypoplasia, short limbs and postaxial polydactyly in a 27-week fetus. The visceral findings in the fetus including the central nervous system were normal. The karyotype was 46XY. The prenatal diagnosis was thought to be type 1 because of the absence of fibulae at ultrasonography. However, postmortem autopsy, histologic, and radiologic findings were reviewed and the diagnosis was type 3 SRPS because of absence of visceral anomalies, presence of fan-shaped iliac bones and short tubular bones with metaphyseal widening. We concluded that detailed ultrasonography performed in the prenatal period is very important in the diagnosis and differential diagnosis of SRPS.

Abnormalities, Multiple↗
PubMed2000

A rare occurrence of polydactyly.

Polydactyly is a common congenital foot deformity that varies in its clinical presentation. Duplication of the central ray accounts for 3% to 6% of all cases of pedal polydactyly. A review of polydactyly and its multiple classification schemes is presented, along with a rare case involving the duplication of a central digit and its surgical correction.

Adult↗
PubMed1999

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.

Abnormalities, Multiple↗
PubMed1999

Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.

Abnormalities, Multiple↗
PubMed2000

[Exclusive mapping on polydactyly with markers on chromosome 7 and 2 in a Chinese kindred].

OBJECTIVE: This study was aimed at mapping polydactyly related genes in a Chinese kindred. METHODS: Linkage analysis was performed using 7 markers on chromosome 7 and 1 marker on chromosome 2. RESULTS: Pairwise linkage analysis showed no linkage between the markers and polydactyly related gene in the kindred. CONCLUSION: The polydactyly related gene in this kindred may be located on a new locus.

Chromosome Mapping↗
PubMedDate not supplied

Crossed polydactyly.

A common and conspicuous congenital hand anomaly, polydactyly commonly involves only the hand or the foot. Polydactyly involving both hands and feet is rare. We herewith report two cases of Crossed Polydactyly (Type I) and review the literature.

Child↗
PubMed2001

Familial torticollis with polydactyly: manifestation in three generations.

Familial transmission of congenital muscular torticollis (CMT) has been reported in the literature, and postaxial polydactyly has been frequently reported in familial cases, but, to our knowledge, familial CMT with postaxial polydactyly has not been described. In this article, we report a rare case of CMT with postaxial polydactyly in 3 generations of a family and suggest an autosomal-dominant pattern of inheritance in these cases.

Humans↗
PubMed2002

Polydactyly of the foot. Literature review and case presentations.

Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metatarsal). The frequency of polydactyly varies widely among populations. It may be an isolated condition or part of a congenital syndrome. Polydactyly is generally classified into three major groups: medial ray (preaxial), central ray and lateral ray (postaxial). The duplication may appear at the distal and middle phalanges or at the whole digit and metatarsal. The complexity of the deformity ranges from a simple soft-tissue problem to a completely developed accessory ray. Careful clinical and radiographic evaluation should be made prior to treatment to achieve good functional and cosmetic results. Most cases are treated during childhood before walking age. Adult cases are more rare, and surgical management of the deformity is still debated. Nevertheless, surgery can be performed at any age as in our series with good results.

Adult↗