A case of fetal skelectal anomaly of Campomelic syndrome.

Kim, Suk Kyung; Kim, Hyeon Chul; Shin, Seung Joo; Lee, Mee Wha; Lee, You Me; Cho, Jin Ho; Choi, Yun Jung; Kwon, Kae Won

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Case Report

Korean Journal of Obstetrics & Gynecology 2000;43(2):311-314.
Published online January 1, 2001.

A case of fetal skelectal anomaly of Campomelic syndrome.

Suk Kyung Kim, Hyeon Chul Kim, Seung Joo Shin, Mee Wha Lee, You Me Lee, Jin Ho Cho, Yun Jung Choi, Kae Won Kwon

Abstract

Campomelic syndrome is a very rare skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity. Cytogenetic study revealed high incidence of a 46,XY karyotype in phenotypic females. Recently, we had experienced a case of campomelic dysplasia at amenorrhea 30weeks and termination was done, so we report with a brief review of literature.

Key Words: Campomelic syndrome, skeletal anomaly, genetic heterogeneity

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