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PubMed2003

Sporadic familial polydactyly.

Polydactyly is one of the most common congenital deformities of the hands. It can occur as an Isolated disorder, in association with other malformations of the hands or feet, or as part of a syndrome. It can occur sporadically but it can also be inherited with a mainly autosomal dominant inheritance. We present a family with three out of four members of the last generation with no previous history of polydactyly. Although the affected children presented different phenotypes of polydactyly, probably all three cases were the result of the same mutation seen in one of the parents. In addition no syndromic association could be found. Our experience with the management of this family's members is presented and possible etiological factors and treatment modalities are discussed.

Child↗
PubMedDate not supplied

Short rib-polydactyly syndrome: a case report.

Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer).

Fatal Outcome↗
PubMed1987

Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that were diagnosed prenatally, were studied. Review of the 54 previously described cases indicates that postaxial polydactyly and hydrometrocolpos in female patients are the hallmark features of this entity. Other manifestations, such as malformations of gastrointestinal, cardiovascular, and ophthalmic structures, occur less consistently. Affected children require careful medical follow-up. Recurrence of hydrometrocolpos following surgical repair may lead to serious sequelae, such as chronic renal failure. We believe that MKS is a distinct panethnic genetic entity, inherited in an autosomal recessive fashion, and that the diagnosis should be made only in female patients with hydrometrocolpos and polydactyly or in male patients with polydactyly who have an affected female relative.

Female↗
PubMed1980

Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.

A newborn with severely shortened ribs, short limbs, and postaxial polydactyly died shortly after birth. Postmortem roentgenograms established the diagnosis of type 3 short rib-polydactyly (SRP) syndrome as described by Naumoff and associates. Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. The material appeared by staining reactions to be a glycoprotein that was seen electron microscopically to accumulate within dilated cisterns of rough endoplasmic reticulum. Similar cytoplasmic inclusions have not been seen in other short rib-polydactyly syndromes, including SRP types 1 and 2, Jeune syndrome, and Ellis-van Creveld syndrome. It is often difficult to differentiate cases of type 3 and type 1 (Saldino-Noonan) syndrome, and in the past the diagnosis has sometimes been confused. A review of previously reported cases showed that type 3 syndrome rarely (1 in 13) had cloacal developmental abnormalities, which are invariably present in patients with type 1 syndrome. Type 3 is also associated with a lower incidence of congenital heart disease, and cardiac malformations, when present, differ from those associated with type 1 syndrome. Both type 3 and type type 1 SRP syndromes are transmitted in autosomal recessive fashion. Type 3 SRP syndrome has had an equal sex distribution, although type 1 has so far been reported to occur only in girls. Further investigation with additional patients is necessary to verify the above preliminary findings.

Bone Diseases, Developmental↗
PubMed1988

Classification of polydactyly of the hands and feet.

The authors present a new classification of polydactyly based on radiomorphological alterations. The malformations are defined in two directions, as in a system of coordinates. The longitudinal arrangement is based on the pathogenetic principle of bifurcation of a finger or a toe ray from distal to proximal. We accordingly divided polydactylies into five types: distal phalanx, middle phalanx, proximal phalanx, metacarpal or metatarsal, carpal or tarsal. The transverse arrangement indicates which rays are involved. All polydactylies, including the special forms such as rudimentary manifestations, triphalangism, and multiple duplications, can be incorporated into this simple basic scheme. Depending on their characteristics, the special forms are further subdivided, e.g., into a distal or proximal phalanx type with simple or double triphalangism, or a tarsal type with third-degree duplication and first-degree aplasia. Numerous radiological examples and schematic drawings illustrate the classification. The advantage of the classification is that it depends exclusively upon the skeletal finding and all manifestations are registered according to a simple scheme longitudinally and transversely. This makes them codifiable for the computer and suitable for multicenter studies. The special forms, the rudiment, triphalangism, and multiple duplication, can easily be further subclassified. Moreover, the nomenclature is simple and is oriented to anatomical terminology.

Fingers↗
PubMed2005

Two cases of complete polymetatarsia without polydactyly.

We report two patients exhibiting complete polymetatarsia between the fourth and fifth metatarsals of the right foot, without supernumerary digit. To our knowledge, only a few cases of polymetatarsia without supernumerary digit have been reported, and all of those cases have involved incomplete duplication. Although there were no externally visible deformities in the present cases, plain radiographs revealed an extra bone between the fourth and fifth metatarsals. Case 1 presented with pain between the fourth and fifth metatarsals, and this pain ceased after resection of the extra metatarsal. Although case 2 was asymptomatic, the extra metatarsal of the left foot was resected during surgery for postaxial polydactyly of the right foot. Although differential diagnosis with os intermetatarseum was problematic, we concluded that the extra bones in the present cases were duplicated metatarsals, rather than accessory bones, based on three clinical findings: configuration of the extra metatarsal (articular cartilage and growth plate), in case 1; location of extra metatarsal (the most common site of polydactyly of the foot), in both cases; and polydactyly of the opposite foot, in case 2.

Child↗
PubMed1991

[Polydactyly].

The authors reports the experience of the plastic surgery unit in the Kassab's Institute of Orthopedics in Tunis. This series consists of 44 cases of polydactyly dominated by duplication of the little finger and the thumb. A slight male predominance was observed and the mean age at surgery was 8 years. Two types of polydactyly were observed: simple, such as rudimentary digits, complex, with associated bone malformation or syndactyly. In ulnar polydactyly, associated duplication of the toes in frequently noted. The most frequent surgical approach was amputation of the more dystrophic finger with reconstruction and correction of the other congenital malformation observed. Some cases of digital redistribution were also performed. A review of the literature is presented together with an objective analyse of esthetic and functional results.

Child↗
PubMed1981

An Indian family with postaxial polydactyly in four generations.

An Indian family was observed with postaxial polycactyly in four generations. Of the twelve affected cases, eleven were male and one was female. The affected males showed postaxial polydactyly Type A in both hands and feet. The affected female showed polysyndactyly and both Types A and B postaxial polydactyly. Study of this family strongly suggests a common causal factor for postaxial polydactyly Types A and B and polysyndactyly. The observations also support an autosomal dominant pattern of inheritance and a high degree of genetic heterogeneity in ths malformation.

Abnormalities, Multiple↗
PubMed1987

Postaxial polydactyly in association with neurofibromatosis.

Von Recklinghausen neurofibromatosis may present many skeletal abnormalities as common features. We describe a family with postaxial polydactyly and neurofibromatosis, an association which has not been previously reported. The special characteristics of postaxial polydactyly of this family were its bilateral and symmetrical appearance, its limitation only to males, simultaneous presence of types A and B in the same patient, and its occurrence in both hands and feet. Postaxial polydactyly type A appeared only in the affected neurofibromatotic members of this family.

Female↗
PubMedDate not supplied

Mapping the naked neck (NA) and polydactyly (PO) mutants of the chicken with microsatellite molecular markers.

The bulked segregant analysis methodology has been used to map, with microsatellite markers, two morphological mutations in the chicken: polydactyly (PO) and naked neck (NA). These autosomal mutations show partial dominance for NA, and dominance with incomplete penetrance for PO. They were mapped previously to different linkage groups of the classical map, PO to the linkage group IV and NA being linked to the erythrocyte antigen CPPP. An informative family of 70 offspring was produced by mating a sire, heterozygous for each of the mutations, to 7 dams homozygous recessive for each locus. Three DNA pools were prepared, pool PO included 20 chicks exhibiting at least one extra-toe, pool NA included 20 non-polydactyly chicks showing the typical phenotype associated with heterozygosity for the naked neck mutation, and pool NP included 20 chicks exhibiting neither of the mutant phenotypes. Typings were done on an ABI-373 automatic sequencer with 147 microsatellite markers covering most of the genome. An unbalanced distribution of sire marker alleles were detected between pool PO, and pools NA and NP, for two markers of chromosome 2p, MCW0082 and MCW0247. A linkage analysis taking into account the incomplete penetrance of polydactyly (80% ) was performed with additional markers of this region and showed that the closest marker to the PO locus was MCW0071 (5 cM, lod score = 9). MCW0071 lies within the engrailed gene EN2 in the chicken. In the mouse, the homologous gene maps on chromosome 5, close to the hemimelic extra-toes mutation Hx. In the case of the NA locus, markers of chromosome 3 were selected because CPPP was mapped on this chromosome. Analysis of individual typings showed a linkage of 5.7 cM (lod score = 13) between the NA locus and ADL0237 in the distal region of chromosome 3q. These results contribute to connecting the former classical map to the molecular genetic map of the chicken, and open the way to the identification of the molecular nature of two developmental mutations of the chicken that are known to occur in many breeds of chickens.

Journal Article↗
PubMed1989

Pedal polydactyly. A case report.

Polydactyly is a common pedal deformity with great variation in clinical presentation. There is a tendency toward a higher incidence in previously affected families, but the actual occurrence rate of the different forms of polydactyly has not been agreed upon in the literature to date. Most authors agree that the isolated deformity is an expression of an autosomal dominant gene with varied penetrance. Syndromatically associated polydactyly is inherited as an autosomal recessive trait. Surgical intervention should be attempted as early as possible. Correction should be undertaken only after a thorough clinical and radiographic evaluation has been performed. The patient's postoperative goals should always be considered. It is not necessary to remove the supernumerary digit if it does not interfere with the foot's function and comfort. Cosmesis should not be the chief consideration. The surgeon should strive to return the foot to a more normal contour while maintaining or improving foot function.

Child↗
PubMed1992

Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation?

OBJECTIVE: To report two children with Ellis-van Creveld syndrome in an extended kindred of Western Australian Aboriginal descent. Furthermore, to document two family members with isolated postaxial polydactyly of the feet as probable heterozygous manifestations of the Ellis-van Creveld gene. CLINICAL FEATURES: Male and female second cousins with short limbs, postaxial polydactyly and cardiac malformations are described. CONCLUSIONS: It is proposed that founder effect and random genetic drift resulted in a relatively high frequency of the Ellis-van Creveld gene in the Aboriginal people of Western Australia. In addition, further evidence is provided for the postulate that isolated postaxial polydactyly is a heterozygous manifestation of the gene.

Ellis-Van Creveld Syndrome↗
PubMed1992

Apert syndrome with partial preaxial polydactyly.

Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Pterygium of the elbow and post-axial polydactyly on the hands as sign of hereditary onyco-osteodysplasia: 4 familial cases].

Four familial cases of HOOD syndrome are reported. A female newborn showed at birth dysplastic thumb-nails, small nails with triangular lunulae, post-axial polydactylyl at left hand, and hypoplasia of the patella. The mother and the mother's brother showed onycodysplasia, hypoplastic dislocated patella, joint contractures, iliac horns, bilateral post-axial polydactyly on the hand and antecubital pterygium. The patient's sister, born to another man, showed onico-osteo dysplasia without pterygium and polydactyly. The variable expressivity of the HODD syndrome and its association with polydactyly, pterygium and nephropathy are discussed.

Adult↗
PubMed1989

[Classification of polydactyly of the hand and foot].

The authors present a classification for polydactyly of the upper and lower limb based on a follow-up examination of 177 patients with 336 polydactylies. The malformations are described in longitudinal and transverse directions. In the transverse axis the affected rays are designated with Roman numbers from I to V. The longitudinal axis from distal to proximal is used to differentiate the rays into ten types according to their duplication assessed both anatomically and radiologically. Triphalangism, rudimentary forms, and trifid rays can also be described by this system, so they can be correlated. Evaluation of the patient group according to this classification shows that the marginal rays of hand and feet are most affected. In the longitudinal axis the metacarpo- metatarsal joint type predominates in the upper and lower limb. Using this classification it seems possible to relate different forms of polydactyly to each other and to compare therapeutic procedures and their results.

Fingers↗
PubMed1986

Polydactyly and polysyndactyly of the fifth toe.

Classification and treatment of polydactyly and polysyndactyly of the fifth toe are described based on a study of 37 patients with 46 affected feet. Polydactyly was seen in 26.1% of duplicated toes, polysyndactyly in 28.3%, and polysyndactyly fused with the fourth toe in 45.7%. Thirty-three patients with 42 toes were surgically treated. The medial toe was removed in patients with the duplicated fifth toe fused with the neighboring fourth toe; if necessary, a free full-thickness skin graft was performed on the fourth toe and not on the fifth toe. Either the lateral or the medial fifth toe was excised for better contour of the forefoot in patients with polysyndactyly without fusion with the fourth toe. The lateral digital ray, including the metatarsal, was excised in patients with polydactyly of the metatarsal type. The average age of patients at operation was 12.3 months (range, five days to five years). Reorganization of the foot was facilitated when the child was treated early or before it could walk.

Female↗
PubMed1987

Congenital metacarpal fusion associated with polydactyly.

A case of congenital fusion of metacarpal bones with polydactyly is reported. The fusion occurred between the proximal parts of the third and the fourth metacarpal bones. The same type of anomaly was induced in rat fetuses by oral administration of myleran. The anomalies for which the critical period is the same as both metacarpal fusion and polydactyly, were analysed. From the results of the experimental study, the authors propose that the cause of the metacarpal fusion associated with polydactyly is the combination of a disorder of ectoderm-mesoderm interaction and a deficit of mesenchymal cells in the limb bud.

Abnormalities, Drug-Induced↗
PubMed1983

Polydactyly of the foot.

Various types of the more common forms of polydactyly are discussed regarding both genetic background and surgical treatment. Two cases involving three different forms of polydactyly are presented. Surgical treatment of the condition is presented on an individual basis as to the type of polydactyly and the overall health status of the patient. Primary goals of surgery are discussed, including relief of symptoms, future shoe wear consideration, cosmesis and avoidance of growth center damage in children.

Adult↗