Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers

Abstract

Three children with the femoral hypoplasia-unusual facies syndrome are described. Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi. The other, an infant girl who died within 24 hours after birth, had a cleft lip, which distorted some of the other features. She also had a cleft palate, as did one of the two older boys. All three children had ear defects, upper limb involvement, and rib, vertebral, lower extremity, and genitourinary tract abnormalities. The infant girl died of lung hypoplasia associated with dysplastic kidneys and widely patent ductus arteriosus. All three were infants of diabetic mothers, one mother having developed overt diabetes in the first trimester of pregnancy. A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes.