29 research outputs found
Complications of suture ligation ablation for ulnar polydactyly: a report of two cases
We report two cases resulting in complications following suture ligation treatment for ulnar polydactyly. One case consisted of bilateral, retained gangrene and cellulitis, and a second case consisted of a residual, sensitive skin tag. The case involving gangrene and cellulitis developed after an unsuccessful suture ligation of bilateral pedunculated duplicated digits. The second case developed after suture ligature ablation of a rudimentary digit in the nursery but presented 3 years later with a residual symptomatic nubbin. Both cases were treated by surgical excision of the residual tissue in the operating room. The first case illustrates a morbid complication following unsuccessful ligature while the second case demonstrates the inevitable suboptimal long-term outcome associated with what has traditionally been considered “successful” suture ligation
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
Item does not contain fulltextPostaxial 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