Bilateral femoral dysgenesis syndrome: a case report

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.