Bilateral aplasia of the radius with abnormal hooking of the claviculae and sucrose-maltose intolerance.
A girl with bilateral radial aplasia, severe deformity of both hands, club foot deformity and mild anemia is described. Especially remarkable is the edging of the lateral part of the claviculae. At the same time the infant is suffering from a sucrose-maltose intolerance.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002968:Clavicle / Q000002:abnormalities*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008320:Maltose / Q000378:metabolism; D011884:Radius / Q000002:abnormalities*; D013395:Sucrose / Q000378:metabolism
D013395:Sucrose; D008320:Maltose