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.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis*; D006801:Humans; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis*