Dyskeratosis congenita: radiologic features.
Three males with the X-linked disorder dyskeratosis congenita are described. Each suffered femoral fractures after minimal trauma with poor healing. Long bones showed coarse trabecular patterns of the metaphyses and small lucency areas in the diaphyses. Two of the males were retarded brothers who additionally showed intracranial calcifications.
D000293:Adolescent; D001847:Bone Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000209:etiology; D005260:Female; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D007633:Keratins / Q000235:genetics*; D008297:Male; D010024:Osteoporosis / Q000209:etiology; D011859:Radiography; D012729:Sex Chromosome Aberrations / Q000000981:diagnostic imaging*; D012871:Skin Diseases / Q000235:genetics; D012886:Skull / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome
D007633:Keratins