Literature DB >> 281283

Bilateral femoral dysgenesis syndrome: a case report.

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

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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Year:  1978        PMID: 281283

Source DB:  PubMed          Journal:  Cleft Palate J        ISSN: 0009-8701


  2 in total

1.  Additional malformations in femoral hypoplasia: unusual facies syndrome.

Authors:  Anoop Verma; Navneet Jain; Karuna Jain
Journal:  Indian J Pediatr       Date:  2002-06       Impact factor: 1.967

Review 2.  Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

Authors:  M A Sabry; D Obenbergerova; R Al-Sawan; Q A Saleh; S Farah; S A Al-Awadi; T I Farag
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

  2 in total

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