Intrinsic defects in the fetal alcohol syndrome: studies on 76 cases from British Columbia and the Yukon Territory.

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.