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Bilateral femoral dysgenesis syndrome: a case report.

作者信息

Goldberg R B, Fish B, Cohen M M, Shprintzen R J

出版信息

Cleft Palate J. 1978 Oct;15(4):386-9.

PMID:281283
Abstract

This paper reports a child with the Bilateral femoral dysgenesis--unusual facies syndrome (BFD-UF). The child has, in addition to previously reported findings, a ventricular septal defect with valvar and infundibular pulmonic stenosis, absence of the labia majora, bilateral syndactyly of the second and third toes, bifid great right toe and a pilonidal sinus. The similarity to cases of Caudal Regression Syndrome (phocomelic diabetic embryopathy) is noted.

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