The femoral hypoplasia-unusual facies syndrome.
A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D011254:Pregnancy in Diabetics; D011859:Radiography; D013577:Syndrome