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PubMed1984

Hypopituitarism in association with postaxial polydactyly.

We report four patients, three boys and one girl, with polydactyly and hypopituitarism. All patients had postaxial polydactyly and subnormal growth hormone responses to standard provocative stimuli. Three of these patients had a family history of polydactyly and few other abnormalities. The remaining patient had a major malformation syndrome including a CNS hamartomatous tumor and early death; this patient had no family history of polydactyly. We believe that the association of postaxial polydactyly with hypopituitarism and possible CNS hamartomatous tumors is an important clinical consideration in the evaluation of children with suspected growth hormone deficiency.

Abnormalities, Multiple↗
PubMed1993

Polydactyly: a study of a five generation Indian family.

Preaxial polydactyly was observed in up to five generations of an Indian family living in a village in the Rajkot district (Gujarat). Among the 71 affected members, 45 were males and 26 were females. All these affected members showed preaxial polydactyly manifesting as a well formed, articulated extra digit of the hand or foot. Twenty other cases were also identified with polydactyly involving triphalangeal digits replacing the thumbs or duplication of the big toe(s). To the best of our knowledge, the present family is the largest in which several members have preaxial polydactyly of different types. No other abnormalities were apparent. The present study strongly suggests that preaxial polydactyly with a well formed extra digit, triphalangeal thumbs, and duplication of the big toe can be manifestations of the same autosomal dominant gene. It is likely that other factors are modifying the expression of this gene.

Adult↗
PubMed1987

Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia.

Attempts to study the genetics of human thumb polydactyly have been hampered by lack of awareness of the extremely varied expression of upper limb preaxial anomalies. It has been appreciated that thumb polydactyly could range from a broadened distal phalanx to complete duplication of the entire thumb. Most cases are sporadic and unilateral, but rare familial cases with wide variability and occasional nonpenetrance have been described. Four unrelated families are described who have thumb polydactyly as part of the range of expression for a dominant gene that is frequently associated with absence of thenar intrinsic muscles and flexor pollicis longus with inability to flex the thumb across the palm (the Fromont anomaly). These families and previous literature reports suggest that expression of the gene can range from thumb hypoplasia (most commonly the Fromont anomaly) to triphalangeal thumb or thumb polydactyly. As a consequence of this experience, we urge that parents, siblings, and other close relatives of patients born with thumb polydactyly be carefully examined for mild degrees of thumb hypoplasia or any other thumb anomaly, and that these findings be considered when providing recurrence risk counseling.

Adolescent↗
PubMed1991

[Polydactyly of the hands. Recommendation for expanded classification].

The few anatomical findings summarized in the literature have now been expanded by our own anatomical dissections on four hands of still-born infants with postaxial polydactyly, and by intra-operative microsurgical investigations of 25 polydactylous hands. New experimentally-based knowledge of embryology helps interpret the morphogenesis and specific anatomy of polydactyly. It can be postulated that both the location and definite form of polydactyly are a function of the location and extent of initial excessive cell proliferation and disturbance of cell necrosis in the hand blastema. The conclusive discussion of special findings regarding anatomical structures shows regular pattern formations which lend themselves to a broader classification. The classification of malformations of the hand by Temtamy and McKusick was used as a framework for the classification of polydactyly, whether it was existing as an isolated form or as part of a syndrome. The osteological types I to VI found by Wassel in thumb duplication are confirmed by our anatomical findings. Special coding of anatomical findings enabled us to identify four variants and three forms, depending on the development of the digital palmar arteries and nerves. For the triphalangeal pre-axial fingers and the post-axial fifth finger, the five osteological types described by Müller and those described by Duhamel are increased to ten. Comparison with our anatomical findings shows four variants of these osteological types. For post-axial polydactyly, types XI through XIV, existing in three variants, have been defined.

Fingers↗
PubMedDate not supplied

Polydactyly of the foot in adults: literature review and unusual case presentation with diagnostic and treatment recommendations.

The authors present an unusual case of polydactyly of the foot in an otherwise healthy adult male. The modern literature describing polydactyly of the foot is reviewed, as well as a review and critique of various classification schemes for foot polydactyly deformities. The authors applied the classification criteria of Blauth and Olason to an atypical case and to other varied, yet typical, presentations of polydactyly of the foot in adults. Nonsurgical and surgical treatment options are reviewed, and a rational treatment plan is proposed based upon use of the classification scheme. They then apply the management plan for symptomatic polydactyly of the foot to the unusual case, and make recommendations for surgical management of this deformity.

Adult↗
PubMed1984

Mixed polydactyly. An unusual case of a patient with seven-toed feet.

Polydactyly is an entity of great etiologic heterogeneity, and many facts about its genetics remain unknown. Therefore, the relative terminology and classification in the literature are rather obscure. Mixed polydactyly, i.e., polydactyly with both preaxial and postaxial involvement in the same person, is very rare, and crossed polydactyly is even more so. A seven-year-old girl with six fingers on each hand and seven-toed feet, lower-mixed and crossed polydactyly with syndactyly, underwent operation mainly for cosmetic reasons. The report of this rare case confirms the great variability and expressivity of this malformation and suggests that large statistical studies on this subject in the future are warranted.

Child↗
PubMed1996

Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?

We report on a male infant with internal hydrocephalus, absence of corpus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, short limbs with bowed long tubular bones and postaxial polydactyly of hands, and preaxial polydactyly in one foot. Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. In addition, a female newborn presented with manifestations of Jeune and Ivemark syndromes. One explanation for this overlap may be compound heterozygosity for these syndromes.

Abnormalities, Multiple↗
PubMed1998

Lack of evidence of a major gene acting on postaxial polydactyly in South America.

Data on polydactyly were obtained from two large samples: the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and from a migrant Northeastern Brazilian population of rural origin (Hospedaria). ECLAMC is a case-control clinical epidemiological program comprising 10,035 individuals distributed among 2,030 segregating nuclear families. Hospedaria data consisted of 6,586 examined individuals belonging to 1,040 nuclear families. Using complex segregation analysis methodology we found no evidence of two loci (a major gene and a modifier locus) acting on postaxial polydactyly in the present study. Very high heritability values (in a classical multifactorial model) of postaxial polydactyly were detected, for several sets of analyses in ECLAMC and in Hospedaria. For the whole ECLAMC sample there is a peculiar suggestion of a major recessive gene effect responsible for the trait; however, no comparison with a model involving transmission probabilities (tau) was possible in this highly heterogeneous sample. If the whole ECLAMC sample is divided in subsamples, according to Black admixture proportions, the same multifactorial picture emerges. Two different inheritance patterns were verified for hand (HP) and foot (FP) postaxial polydactyly: For HP there is evidence of a non-Mendelian transmission mechanism, while for FP the parental/sib transmission appears to be due only to multifactorial causes.

Brazil↗
PubMed2002

Diagnostic dilemmas in the short rib-polydactyly syndrome group.

The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs. At least four types have been recognized. The radiological findings of 10 cases are presented. Each fetus or stillbirth has some of the radiological features of the four established types of short rib-polydactyly syndrome and raises diagnostic dilemmas in differentiating these entities. The overlapping phenotypes of these fetuses supports the previously suggested hypothesis that the different subtypes of the short rib-polydactyly syndrome group are not single entities, but rather part of a continuous spectrum with variable expressivity.

Ellis-Van Creveld Syndrome↗
PubMed2007

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Spatio-temporal expression of sonic hedgehog (SHH) is driven by a regulatory element (ZRS) that lies 1 Mb upstream from SHH. Point mutations within the highly conserved ZRS have been described in the hemimelic extra toes mouse and in four families with preaxial polydactyly [Lettice et al., 2003]. Four North American Caucasian families were identified with autosomal dominant triphalangeal thumb. DNA from 20 affected and 36 unaffected family members was evaluated by sequence analysis of a 774-bp highly conserved ZRS contained within LMBR1 intron 5. Mutations within ZRS were identified in three of four families. In pedigree A and C, a novel A/G transition was identified near the 5' end of ZRS at bp 739 that segregated with disease or carrier status. Pedigree A, described previously [Dobbs et al., 2000], is a large family with 19 affected members who exhibit a milder phenotype, including predominantly triphalangeal thumbs and low penetrance (82%) relative to other families. Pedigree C is a small family with two affected family members with triphalangeal thumb, and one affected with both triphalangeal thumb and preaxial polydactyly. A novel C/G mutation at bp 621 was identified in pedigree B that segregated with the disease in all four affected individuals who manifested both preaxial polydactyly and triphalangeal thumb. Both mutations alter putative Cdx transcription factor binding sites. Mutations within ZRS appear to be a common cause of familial triphalangeal thumb and preaxial polydactyly. A genotype/phenotype correlate is suggested by pedigree A, whose mutation lies near the 5' end of ZRS; this family demonstrates a higher rate of nonpenetrance and milder phenotype. However, modifier genes may be contributing to the milder phenotype in this family.

Base Pairing↗
PubMed1999

The mouse mutation Pdn (Polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene.

Mutations in the Gli3 gene are associated with a preaxial polydactyly in several mouse mutants such as extra-toes (Xt). The semidominant mouse mutant Pdn (Polydactyly Nagoya) is characterized by a mild polydactyly on the anterior side of the hind limbs. Homozygous Pdn mice show a more severe polydactyly, additional skeletal malformations, and abnormal brain development. Herein, we report the molecular basis of Pdn, being the integration of an Early Transposon (ETn) into the Gli3 gene. As a consequence, several novel Gli3 mRNAs are generated by alternatively spliced transcripts.

Amino Acid Sequence↗
PubMed2005

[Complex polydactyly of the limbs: mirror foot. Report of two cases and review of literature].

Polydactyly is the most common congenital limb anomaly occurring both as an isolated defect or as part of a syndrome. However mirror foot is an exceptional abnormality (14 cases reported). The authors describe two sporadic cases of mirror foot. The first case presents a mirror polydactyly of the left foot, an hexadactyly of the right foot and a central polysyndactyly of both hands. The second case presents a mirror polydactyly of both feet. Mirror foot is a very rare defect. Both sporadic and familiar cases have been reported. This malformation can affect one or both feet. Some cases are associated with other congenital anomalies. The definition of mirror foot is warying according to the authors and the review of literature shows an important variability in the patterns of mirror polydactyly. Mirror duplication of hands and feet result of aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge during limb bud development. Different genes encoding limb pattern have been described.

Abnormalities, Multiple↗
PubMed2002

Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.

Postaxial polydactyly is characterised by fifth digit duplications in hands and/or feet. Two phenotypic varieties have been described. In type A, the extra digit is well formed and articulates with the fifth or an extra metacarpal. A rudimentary extra fifth digit characterises type B. Mutations in the GLI3 gene are associated with postaxial polydactyly in some families and a second locus has been identified on chromosome 13 but the majority of cases remain unexplained. We report here a third locus for postaxial polydactyly on chromosome 19p13.1-13.2 in a large Chinese kindred with a combination of type A and B. Two-point linkage analysis showed the highest LOD score (Z(max) = 5.85 at theta; = 0 cM) at marker D19S221. Recombination events with markers D19S1165 and D19S929 define the critical region for this postaxial polydactyly locus to a region of 4.3 cM on the genetic map.

China↗
PubMedDate not supplied

Foot polydactyly and polysyndactyly: genetic implications in two families.

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.

Adult↗
PubMed2005

Polydactyly, triphalangism of the thumb, and carpal abnormalities in a family.

Many authors have documented the anatomic variability of radial-sided polydactyly and triphalangism of the thumb, but the relationship between these two conditions remains confusing. This study was done to determine if all types of radial-sided polydactyly and triphalangism of the thumb are related. Twenty-five members of a family with these abnormalities were evaluated clinically and radiographically by using radiographs of the hands and feet and, where appropriate, the tibia, in order to ascertain whether all variations of radial-sided polydactyly and triphalangism of the thumb could be found in this family. The hand abnormalities comprised eight types based on the number of digits, the number of phalanges, and whether the digits or phalanges were normal, hypoplastic, or rudimentary. Five distinct carpal anomalies were identified. Essentially all described types of radial-sided polydactyly and triphalangism of the thumb occur in this family. The occurrence of these abnormalities is determined by a single autosomal dominant gene. The manner in which the gene is expressed is determined either by its allele or by a combination of genetic and environmental factors. The findings in the parent cannot be used to predict the findings in the offspring.

Adolescent↗
PubMed2006

Classification of postaxial polydactyly of the foot.

BACKGROUND: The origins and shapes of accessory digits in postaxial polydactyly of the foot were analyzed morphologically and radiographically, and their characteristics were determined. A simple classification method was then devised to assist in determining the most appropriate treatment options. METHODS: We evaluated 113 feet of 95 patients who had surgery for the treatment of postaxial polydactyly between 1998 and 2002. Based on the morphologic, radiographic, and operative findings, the cases were classified according to the origin of the accessory digit: middle phalangeal, proximal phalangeal, floating, fifth metatarsal, or fourth metatarsal. The proximal phalangeal type was further divided into three subtypes: proximal phalangeal lateral type, proximal phalangeal medial, and proximal phalangeal head. RESULTS: Of the 113 feet, 36 were middle phalangeal type, 45 were proximal phalangeal type, 5 were floating type, 15 were fifth metatarsal type, and 12 were fourth metatarsal type. Of the proximal phalangeal types, 15 were laterally duplicated supernumerary sixth digits, and 17 were medially duplicated supernumerary fifth digits. The duplicated digits of the remaining 13 originated at the distal portion of the proximal phalanx. In the middle phalangeal, proximal phalangeal head, proximal phalangeal medial, and fourth metatarsal types, the medial accessory fifth digit was an abnormally duplicated digit, which was excised. In the proximal phalangeal lateral, floating, and fifth metatarsal types, the lat eral accessory sixth digit was excised. For the children in this study, we did not perform reconstruction of the deep transverse metatarsal ligament or collateral ligament. Also, we did not use longitudinal pin fixation. Skin necrosis occurred in 10 feet that resolved, and in five of the 15 feet of the 5th metatarsal medial deviation occurred. CONCLUSIONS: Based on the morphologic, radiographic, and operative findings, we suggest a classification method of postaxial polydactyly of the foot. We believe this is a straightforward and useful method for the treatment of postaxial polydactyly.

Adolescent↗
PubMed2004

[Epidemiological analysis of polydactylies in Chinese perinatals].

OBJECTIVE: To investigate the epidemiologyical characteristics of polydactyly. METHODS: The method of Hospital-based surveillance within Chinese Birth Defects Monitoring Network (CBDMN) was adopted. All perinatals (from 28 weeks of gestation to a period of 7 days after birth) in the participating hospitals were investigated from 1996 to 2000. RESULTS: A total of 2097 cases were identified in 2218616 perinates, the prevalence was 9.45 per 10000. The prevalence of male was significantly higher than the female's. The urban prevalence was 9.60 per 10000, and the rural prevalence was 9.05 per 10000. Significant difference and increasing time trend were observed in annual prevalence rate during 1996-2000. Of the 2097 cases, 1853 (88.4%) were in the isolated form, and the rest (11.6%) of them were combined with other defects. Among 1942 perinatals affected by polydactyly, 679 (34.96%) cases occurred in the left limbs, 886 (45.62%) cases occurred in the right limbs, and 377 (19.41%) cases occurred bilaterally. CONCLUSION: The prevalence rates of polydactylies in Chinese perinatals show male predominance and geographic variations. Most of the polydactyly cases were in the from of single defect; however, those accompanied by other defects had a higher perinatal fatality rate.

China↗
PubMed2004

[Progress on polydactyly character of vertebrate].

Polydactyly is a common abnormal limb phenotype in vertebrate and there is similar limb phenotype among different species. Research shows that polydactyly has a similar development mechanism, and this kind of polydactyly character seems to be controlled by homologous genes among species. The latest research results on human and mouse further shows that PPD should be caused by the disruption of a long range cis-acting regulator for Shh within Lmbr1 intron. Here the development mechanism and related genes controlling polydactyly character of vertebrate are reviewed.

Animals↗