title: [The femoral hypoplasia syndrome and unusual facies in an infant of a diabetic mother].
abstract: One-month-old female infant of diabetic mother with the femoral hypoplasia--unusual facies syndrome is presented. At birth the characteristic facial pattern of long philtrum with thin upper lip, micrognathia and cleft palate was present. Both legs showed extreme shortening of the upper segments. X-rays showed numerous skeletal abberations including radioulnar synostosis of the right elbow, dysplastic sacrum and hypoplasia of the femurs, the right one more severe. Radiological findings also revealed abnormal left kidney's collecting system and absence of the right kidney. Possible contributing factors to the pathogenetic mechanism underlying the skeletal defects in infants of diabetic mothers are considered.
authors.affiliation: Klinika za djecje bolesti, KBC, Medicinski fakultet Sveucilista u Zagrebu.
authors.forename: M
authors.initials: M
authors.lastname: Dumić
authors.forename: J
authors.initials: J
authors.lastname: Vuković
authors.forename: A
authors.initials: A
authors.lastname: Radica
authors.forename: M
authors.initials: M
authors.lastname: Granić
authors.forename: N
authors.initials: N
authors.lastname: Car
authors.forename: D
authors.initials: D
authors.lastname: Anticević
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D011247:Pregnancy; D011254:Pregnancy in Diabetics
vernacular_title: Sindrom hipoplasticnih femura i neobicnog lica u djeteta majke dijabeticarke.