title: Intrinsic defects in the fetal alcohol syndrome: studies on 76 cases from British Columbia and the Yukon Territory.
abstract: Children diagnosed as FAS using standard criteria of maternal alcoholism, poor growth, delayed development and characteristic facial appearance underwent an investigative protocol involving skeletal x-ray surveys, cardiac assessments and intravenous pyelograms (IVP). Significant skeletal findings included cervical spine fusion in 20 of 46 children (43%), x-ray confirmation of microcephaly in 26/49 (53%) and abnormal thoracic cage development in 13/48 (27%). Thirty-nine of 54 children (72%) demonstrated a characteristic tapering of the shaft and occasional associated prominence of the tuft of the distal phalanges Bone age was delayed 2 standard deviations or greater in 14 of 51 children (27%). Cardiac lesions were found in 31 of 76 (41%) and a further 12 (16%) had functional murmurs. Lesions were ventricular septal defect 20 (26%), Tetralogy of Fallot 4 (5.1%), plus a variety of less frequent abnormalities. IVP's were limited to 19 random cases with 5 (26%) showing alterations from the normal. Cervical spine abnormalities of FAS as compared to the Klippel-Feil Syndrome are dissimilar and probably represent a different entity. Hand and lateral cervical spine x-ray studies are felt to be a useful adjunct to the diagnosis and management of the fetal alcohol syndrome.
mesh_terms: D000014:Abnormalities, Drug-Induced / Q000000981:diagnostic imaging / Q000209:etiology*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001955:British Columbia; D002170:Canada; D002648:Child; D002675:Child, Preschool; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000000981:diagnostic imaging / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000139:chemically induced*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007714:Klippel-Feil Syndrome / Q000473:pathology; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000002:abnormalities