Caudal regression anomalad (sacral agenesis) in siblings.
Hypoplasia of the caudal end of the spine and associated anomalies were observed in two male siblings who also had congenital heart disease. The disorder has overlapping features with the VATER association and the caudal regression anomalad, and probably has a genetic basis, although the mode of inheritance is not clear.
D000015:Abnormalities, Multiple / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012447:Sacrum / Q000002:abnormalities* / Q000000981:diagnostic imaging