Familial congenital bowing with short bones.
The case reports of 2 brothers with congenital bowing and short broad bones are discussed. In this apparently new familial bowing syndrome, the rhizometic portions of the limbs are more severely involved, particularly the femora. In early infancy the metaphyses are moderately flared and irregular, but these improve dramatically during childhood. Clinical abnormalities are limited primarily to the thorax. Prognosis appears good except for the persisting disproportionately short stature. These 2 patients may resemble one or both patients previously reported by Khajavi et al. under the label of short-limbed campomelic syndrome, normocephalic type (1).
D000367:Age Factors; D001846:Bone Development; D001847:Bone Diseases / Q000151:congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging