Carlson J W, Harlass F E
Department of Obstetrics and Gynecology, William Beaumont Army Medical Center, El Paso, Texas.
J Reprod Med. 1993 Mar;38(3):228-32.
Osteogenesis imperfecta (OI) is a metabolic disorder of connective tissue; it is typically characterized by blue sclera, bone fragility and deformity secondary to repetitive fractures. The severity of the disease in the infant cannot be predicted by the phenotypic presentation of the mother. We present a case report and review literature and discuss the prenatal diagnosis, evaluation criteria and guidelines for delivery.
成骨不全症（OI）是一种结缔组织的代谢紊乱疾病；其典型特征为蓝色巩膜、因反复骨折导致的骨脆性和畸形。婴儿期疾病的严重程度无法通过母亲的表型表现来预测。我们现报告一例病例并回顾文献，讨论产前诊断、评估标准及分娩指南。
