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PubMed1996

Central-type eight-toed polydactyly associated with ipsilateral complex renogluteal agenesis: a case report with 8 years' follow-up.

At birth, a baby girl was found to have central-type eight-toed polydactyly of the left foot associated with ipsilateral nonvisualization of the kidney and atrophy of the gluteal maximum muscle. X-ray examination showed eight completely developed metatarsal and digit bones, and a chromosome study showed a normal 46, XX karyotype. She received ray amputation of the extra toes when she was 1 year old. Follow-up examination at age 9 showed unchanged renogluteal anomalies and a slightly smaller left foot. In addition, a bony defect over the posterior iliac spine and a wide femoral neck-shaft angle were found on the radiograph. Her left leg was found to be 1 cm shorter than the right, but there was no evidence of valgus or varus. Presently she can walk and run quite well, and there is no callus formation over her sole. The timing and options for excision of the supernumerary digits are discussed and this rare disease reviewed.

Abnormalities, Multiple↗
PubMed1995

The zig-zag deformity in pre-axial polydactyly. A new cause and its treatment.

Most cases of zig-zag deformity following treatment of pre-axial polydactyly have resulted from inadequate reconstruction of bifid bony elements. We report its development after simple suture ligature of the radial component of a bifid thumb in the form of a soft tissue tag at the level of the MP joint. Successful reconstruction has been achieved with the use of similar principles proposed for the more characteristic zig-zag deformity. Parents, paediatricians, and obstetricians should be warned that simple suture ligature of the soft tissue tag may allow the development of a zig-zag deformity and require further reconstruction.

Female↗
PubMed1999

Hypothalamic dysfunction with polydactyly and hypoplastic nails.

Attention to a careful diagnostic work-up should be given to patients with postaxial polydactyly or apparently isolated hypothalamic hamartomas. Early recognition of the condition is critical for management, particularly for anticipating and preventing endocrine emergencies. Conservative management of the hypothalamic hamartoma should be stressed. Finally, detailed genetic counseling should be provided to the family regarding autosomal-dominant inheritance as well as the wide range of interfamilial and intrafamilial variability.

Brain Diseases↗
PubMed2003

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Postaxial polydactyly (PAP) is the occurrence of one or more extra ulnar or fibular digits or parts of it. In PAP-A, the extra digit is fully developed and articulates with the fifth or an additional metacarpal/metatarsal, while it is rudimentary in PAP-B. Isolated PAP usually segregates as an autosomal dominant trait, with variable expression. Three loci are known for PAP in humans. PAPA1 (including PAP-A/B in one patient) on 7p13 caused by mutations in the GLI3 gene, PAPA2 on 13q21-q32 in a Turkish kindred with PAP-A only, and a third one (PAPA3) in a Chinese family with PAP-A/B on 19p13.1-13.2. We identified a fourth locus in a large Dutch six-generation family with 31 individuals including 11 affecteds. Their phenotype varied from either PAP-A, or PAP-B to PAP-A/B with or without the co-occurence of partial cutaneous syndactyly. We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis.

Chromosomes, Human, Pair 7↗
PubMed2000

Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation.

Digit patterning is established through multiple genetic interactions. Delta-crystallin enhancer/E2-box factor (deltaEF1) is a zinc finger and homeodomain containing repressor protein, and is expressed in the posterior half of the forelimb bud and in the entire hindlimb bud during the early stage of limb development. The 6EF1-deficient mutant mice display various skeletal abnormalities, among which inferior ossification and abnormal patterning of autopodial bones are similar to those observed in Hox and Gli gene mutants. Gli3 mutant mice, extra toes (Xt), exhibit pre-axial polydactyly losing the identity of digit I. It is demonstrated here that deltaEF1null(lacZ) homozygosity suppressed formation of the extra digit, uniquely of the hindlimb, in both Gli3XtJ heterozygous and homozygous mutants, but with no restoration of digit I identity. In Gli3XtJ mutants, the Hoxd13 expression domain was expanded more dramatically in homozygotes. In Gli3XtJ;deltaEF1null(lacZ) double homozygous mutants, Hoxd13 expression once expanded in Gli3XtJ homozygous mutant was reduced, more conspicuously in the hindlimbs, which may account for hindlimb-restricted suppression of formation of the extra digit. The data suggest the possibility that the extent of Hoxd13 expression along the distal margin of the limb bud is determinative in defining the digit number.

Animals↗
PubMed1998

Morphogenesis of Doublefoot (Dbf), a mouse mutant with polydactyly and craniofacial defects.

We report the morphogenesis of a new mouse mutant, Doublefoot (Dbf). The major phenotypic features involve the limb and craniofacial regions. There is polydactyly of all 4 limbs, with typically 6-8 digits per limb. All of the digits are triphalangeal; some show bifurcations and some are not attached to the carpus/tarsus. The carpus and tarsus are broader than normal, and their elements are partially fused. There are also tibial defects. Mutant embryos show a diencephalic bulge on d 10.0, with older animals exhibiting broadened and bulbous skulls sometimes with an additional midline skeletal element, shortened snouts and bulging eyes. Homozygotes, which do not survive beyond d 15, show midline facial clefting. In this study of the embryonic and fetal development of Dbf animals, we focus on the morphogenesis of the limbs and head, and discuss the possible molecular developmental mechanisms.

Animals↗
PubMedDate not supplied

[Typical complications of short rib polydactyly syndrome].

Osteochondrodysplasias are hereditary dysfunctions of the enchondral ossification with a decreased longitudinal bone-growth. We describe the case of a female child which suffered from a short rib-polydactyly-syndrome, a localised form of a osteo-chondrodysplasia, and died at the age of nine months as a result of the typical complications of this disease.

Bronchopulmonary Dysplasia↗
PubMed2002

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch (Ssq). The genetic lesions in both lie within the same respective intron of the LMBR1/Lmbr1 gene, which resides approximately 1 Mb away from Shh. Genetic analysis of Ssq reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh. This regulator is most likely the target for generating PPD mutations in human.

Animals↗
PubMed1997

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar condition, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease. Linkage and haplotype analysis determined that the disease locus in this pedigree resides on chromosome 4p16, distal to the genetic marker D4S3007 and within a 17-cM region flanking the genetic locus D4S2366. This region includes the Ellis-van Creveld syndrome locus, which previously was reported to map within a 3-cM region between genetic markers D4S2957 and D4S827. Either the genes for the condition in our family and for Ellis-van Creveld syndrome are near one another or these two conditions are allelic with mutations in the same gene. These data also raise the possibility that Weyers acrofacial dysostosis is the heterozygous expression of a mutation that, in homozygous form, causes the autosomal recessive disorder Ellis-van Creveld syndrome.

Abnormalities, Multiple↗
PubMed1993

A combination surgical method for preaxial polydactyly of the foot.

A combination procedure was performed on the medial two toes in a 6-month-old child with preaxial polydactyly of the left foot. The first toe had the appearance of a cosmetically intact great toe, but the second toe had better function. A method to combine the advantages of these two toes was therefore applied, with favorable results seen at 1.5 years after surgery.

Follow-Up Studies↗
PubMed1994

Combination of unilateral polydactyly, syndactyly, and clinodactyly with occipitocervical encephalocele and vertebral fusion.

This report describes a 6-year-old Mexican boy presenting with inter alia, hitherto unrepaired cervical encephalocele and associated unilateral syndactyly. There was also ipsilateral clinodactyly of the thumb and possible polydactyly of the foot. In addition, there was unilateral fusion of the first and second cervical vertebrae and a Chiari type III malformation. Motor and language skills were grossly normal for age, with the exception of mild left hemiparesis affecting the arm more than the leg. Medical history was significant for incidental drainage from the encephalocele as well as occasional high fevers and possible episodes of central nervous system infection. The clinical findings were not consistent with Meckel-Gruber or any other well-recognized syndrome. It is our contention that this case documents a previously unreported constellation of congenital anomalies and, as such, may suggest a teratological insult or a new syndrome. Surgical repair was carried out with meticulous excision of dysplastic neural tissue, relocation of neural tissue within the thecal sac, and coverage of the repair site with a trapezius muscle flap. Skin was closed directly. Postoperative recovery was largely uneventful, with the exception of a seroma in the donor muscle bed.

Abnormalities, Multiple↗
PubMed1995

Radial polydactyly: an outcome study.

Radial polydactyly is a relatively common congenital disorder that frequently occurs as thumb duplication. A paucity of information exists on outcomes of Bilhaut-Cloquet procedures. To evaluate clinical outcomes, the results of various operative and nonoperative treatments were reviewed. Follow-up by retrospective chart review was performed on 21 patients treated between 1979 and 1994 at the Shriners Hospital for Crippled Children in Erie, Pennsylvania. Patient interview or physical examination, or both, was performed on 16 of these patients. The study was comprised of 9 boys and 12 girls (average age, 7.8 years; range, 1.5-15.8 years) and included 26 thumbs. Ablation alone was performed in 6 thumbs (6 patients), a combined procedure consisting of ablation with radial collateral ligament reconstruction and shaving of the metacarpal in 10 thumbs (9 patients), and a Bilhaut-Cloquet procedure in 5 thumbs (4 patients). Five thumbs (4 patients) with Wassel type I classification were managed without surgical intervention and simply observed. Of the 6 thumbs treated with ablation alone, 5 required subsequent procedures (radial collateral ligament reconstruction). Ablation with collateral ligament reconstruction and articular surface shaving improved clinical alignment and stability but did not return normal interphalangeal joint motion. The Bilhaut-Cloquet procedure improved the overall cosmetic and functional appearance but likewise did not restore normal joint motion. Our findings support current literature that finds that ablation of the thumb without reconstruction is contraindicated because of the high reoperation rate. Although techniques have evolved that improve alignment and stability or appearance, none guarantee normal joint motion. All patients were satisfied, however, that the thumb was significantly improved compared with the preoperative condition.

Adolescent↗
PubMed2002

Pre-axial polydactyly: outcome of the surgical treatment.

From 1988 to 1999 we operated on 22 patients for pre-axial polydactyly. We retrospectively reviewed all files and we clinically reviewed 16 patients. We report on the epidemiology, the surgical technique, the outcome and the complications. All patients were operated on by the same hand surgeon (L.D.S.) and reviewed by an independent observer (S.K.). Aesthetic and functional outcome is reported. In general the surgical treatment for pre-axial duplications gives excellent functional and good aesthetic results. According to the Egawa score, 13 patients obtained an excellent, one a fair and two a poor result. The overall satisfaction rate is very high for both patient and parents and the complication rate was low. The functional outcome seems to be related to the stability of the interphalangeal and metacarpo-phalangeal joints. The most frequent aesthetic problem is a deviation of the axis. Loss of mobility of the thumb seems to be of less importance.

Child, Preschool↗
PubMed1998

Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?

We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of Sjögren-Larsson syndrome. The nosology of 'bird-headed' dwarfism is briefly discussed.

Abnormalities, Multiple↗
PubMed2000

Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.

We report a Brazilian boy, born to consanguineous parents. On the left arm there was a proximal 'ring shaped' constriction, regional aplasia cutis, and a short hand with markedly hypoplastic fingers and nails 2-3. He also had a bilateral cleft lip/palate, preaxial polydactyly involving the distal phalanx of the left index finger, and a supernumerary nipple on the right. The differential diagnosis is discussed.

Abnormalities, Multiple↗