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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.

摘要

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Bilateral femoral dysgenesis syndrome: a case report.
Cleft Palate J. 1978 Oct;15(4):386-9.
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引用本文的文献

1
Additional malformations in femoral hypoplasia: unusual facies syndrome.股骨发育不全合并其他畸形:特殊面容综合征。
Indian J Pediatr. 2002 Jun;69(6):531-2. doi: 10.1007/BF02722660.
2
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.伴有足拇趾裂、胫骨缺如及阴茎粗大的股骨发育不全-特殊面容综合征:一例贝都因婴儿报告
J Med Genet. 1996 Feb;33(2):165-7. doi: 10.1136/jmg.33.2.165.