Document Type

Article

Publication Title

Journal of the American Osteopathic Association

Abstract

Osteogenesis imperfecta is a rare, inherited disorder of connective tissue. Although many organs are affected, the major feature of the disease is bone fragility. Patients severely affected may have hundreds of fractures, the majority of which occur prior to puberty. The apparently multiple heredity patterns associated with this disease may account for the wide variety of clinical features. The first case reported here shows a previously unreported association of fetal ascites obscuring an antenatal diagnosis of osteogenesis imperfecta type II by ultrasonography. The second case appears to be a milder expression of osteogenesis imperfecta type II, with no evidence of fractures until delivery. Debate continues over the genetic and prognostic heterogeneity of this disease. Management is limited to aggressive fracture care with the emphasis on early weight-bearing to prevent immobilization osteoporosis and maximizing long-term mobility. The problems in genetic counseling are discussed.

DOI

10.1515/jom-1985-850724

Publication Date

7-1-1985

ISSN

1945-1997

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