Occipital horn syndrome. Additional radiographic findings in two new cases.
Occipital horn syndrome, a rare genetic disorder of copper metabolism, was recognized in 2 unrelated patients. Radiographs of these patients at various ages allowed confirmation of previously described radiographic findings. In addition, new radiographic manifestations were encountered. These pathognomonic radiographic findings are presented and the clinical and biochemical features of occipital horn syndrome are reviewed.
Herman
T E
TE
Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri.
McAlister
W H
WH
Boniface
A
A
Whyte
M P
MP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D002648:Child; D003300:Copper / Q000378:metabolism; D006801:Humans; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000000981:diagnostic imaging; D009777:Occipital Bone / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome
D003300:Copper