A Case of Osteogenesis Imperfecta: Diagnosis in Uterus by Ultrasonogram.

Seol, Hyun Ju; Kim, Moon Jung; Kim, Mi Kyung; Park, Hyun Ju; Shin, Ji Hye; An, Hyun Suk; Choi, Won Young

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Case Report

Korean Journal of Obstetrics & Gynecology 2003;46(6):1246-1249.
Published online June 1, 2003.

A Case of Osteogenesis Imperfecta: Diagnosis in Uterus by Ultrasonogram.

Hyun Ju Seol, Moon Jung Kim, Mi Kyung Kim, Hyun Ju Park, Ji Hye Shin, Hyun Suk An, Won Young Choi

Department of Obstetrics and Gynecology, Ilsin Christian Hospital, Busan, Korea.

Abstract

Osteogenesis imperfecta is a heterogeneous group of disorders that are characterized by connective tissue defects resulting in bone fragility, blue sclera, impaired hearing, defective dentition, and hyperlaxibility of the joints. The overall incidence of osteogenesis imperfecta is estimated at 1/25,000. We recently experienced a case of osteogenesis imperfecta type II diagnosed in uterus by ultrasonogram and confirmed after termination of pregnancy and autopsy. We report a case here with a brief review of the literature.

Key Words: Osteogenesis imperfecta, Ultrasonogram

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