View clinical trials related to Polydactyly.
Filter by:Reconstruction of soft-tissue defects in multiple digits poses a significant challenge. This article reports simultaneous reconstruction of multiple small-to-moderate soft-tissue defects using regional dorsal digital island flaps and evaluated the efficacy of their application in such complex situation. A retrospective study will be conducted with 26 patients who had multiple-digit soft-tissue defects treated with regional dorsal digital island flaps. At the final follow-up, we will evaluate the efficacy of their application in such complex situation.
A triphalangeal thumb is a thumb with three phalanges. The thumb often appears long and fingerlike, and can sometimes be in the same plane as the other fingers. Anatomically, the extra phalanx can have different shapes. Several classification systems have been used, but the simplest and most often used is the Wood (1976) classification by the shape of the extra phalanx. If the extra phalanx is triangularly shaped it is classified as a type I. Type II has a rectangular shaped extra phalanx but it has not developed as a full phalanx. Type III is a full extra phalanx.
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.