How to counsel in osteopathia striata with cranial sclerosis.
Osteopathia with cranial sclerosis (OS-CS) is an autosomal dominant condition, which is characterized by typical radiological changes of the skull and the long bones, in association with a wide variety of clinical symptoms. A family is reported with at least three affected individuals. One of them, a young women and her husband asked for a preconceptional advice, but the highly variable expressivity, as documented by this family, made it very difficult to counsel them properly.
Keymolen
K
K
Department of Radiology, University Hospital, Vrije Universiteit Brussel.
Bonduelle
M
M
De Maeseneer
M
M
Liebaers
I
I
D000328:Adult; D001847:Bone Diseases / Q000235:genetics*; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012598:Sclerosis / Q000000981:diagnostic imaging / Q000473:pathology; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology