The femoral hypoplasia-unusual facies syndrome: a genetic entity?
Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia-unusual facies syndrome (FH-UFS). We believe that the FH-UFS represents the end of the spectrum of a malformation complex and that it does not exist as a specific syndromic entity. Available evidence indicates that the pathogenesis is multifactorial rather than the result of any simple genetic mechanism.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities*; D013577:Syndrome