Ectrodactyly and Prenatal Diagnosis

Autor: K. K. Gopinathan, S. B. Nair, G. Mukundan, R. Thomas
Rok vydání: 2011
Předmět:
Zdroj: The Journal of Obstetrics and Gynecology of India. 61:683-685
ISSN: 0975-6434
0971-9202
DOI: 10.1007/s13224-012-0120-5
Popis: Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even part of the upper arm. More severe manifestations are hemimelia or amelia. All these abnormalities are considered to represent various degrees of severity of the same anomaly and may be due to an intrauterine vascular occlusion or insufficiency [2]. These different forms are connected with a different genetic mutation. Type I, the most frequent form has been found to be a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6. Usually this is characterized as the split hand/foot deformity due to the absence of the third digit, with clefting into the proximal portion of the hand or foot and syndactyly of remaining digits on each side of the cleft. The hand resembles a lobster claw [3]. The association of ectrodactyly with cleft lip and palate was originally described by Cockayne [4]. It was known as Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC syndrome) [5].
Databáze: OpenAIRE
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