title: Osteogenesis imperfecta with dominant inheritance and normal sclerae.
abstract: Most patients with dominantly inherited osteogenesis imperfecta have blue sclerae and relatively mild symptoms. However, in a small group of families the patients have normal sclerae and this disorder has been classified as Type 4 osteogenesis imperfecta. This paper reports the clinical and radiographical features of 48 patients from 16 families with Type 4 osteogenesis imperfecta and compares the findings with those of the classical disorder with blue sclerae (Type 1 osteogenesis imperfecta). The two types are similar in usually causing a mild disease but with a wide range of severity, and in both types the rate of fracture declines in adolescence. There are, however, some significant differences apart from the colour of the sclerae. In Type 4 the first fracture more commonly occurs at birth, dentinogenesis imperfecta is more frequent than in Type 1 and bruising and nose-bleeds are less common. As in Type 1, the radiographic appearances of the bones may be normal. It is important that Type 4 osteogenesis imperfecta should be recognised because of the need for competent genetic counselling, because the management may be different from that appropriate for Type 1 and because it may be mistaken for idiopathic juvenile osteoporosis or child abuse.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003811:Dentinogenesis Imperfecta / Q000150:complications; D005260:Female; D005598:Fractures, Spontaneous / Q000209:etiology; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012590:Sclera / Q000002:abnormalities