Understanding the molecular basis of polydactyly.
نویسنده
چکیده
منابع مشابه
Review of Literature: Genes Related to Postaxial Polydactyly
BACKGROUND Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes. There is no primary investigational strategy for PAP cases with single gene disorder in literature. PAP cases with single gene disorder can be classified according to common pathways and molecular basis. Molecular classification may help in diagnostic approach....
متن کاملFanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report
This case report presents a case of Fanconi’s Anemia with an unusual thumb polydactyly in a 2-year old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion.The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was ...
متن کاملAn unusual case of preaxial polydactyly of the hand
Preaxial polydactyly is the most common duplication pattern in white and Asian populations (1). It is a congenital anomaly with a wide range of manifestations .Current classification do not have the capacity to classify all different types of radial polydactyly. We describe here a very rare and unusual case of bilateral preaxial polydactyly (triplication) in a woman and report the operations re...
متن کاملAn unusual case of radial polydactyly, (tetraplication of the thumb, duplication of the radial carpal bones and bifurcation of the radius)
Radial polydactyly, the most common digital duplication in Asian and white populations, has a wide range of manifestations. Its classification is useful for planning and assessing surgical treatment. Our patient had four thumbs, duplicated radial carpal bones, and a bifurcated radius. This presentation is not covered by any of the current classifications. To the best of our knowledge, this is...
متن کاملMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the func...
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ورودعنوان ژورنال:
- Orthopedics
دوره 33 10 شماره
صفحات -
تاریخ انتشار 2010