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김숙경(Suk Kyung Kim),김현철(Hyeon Chul Kim),신승주(Seung Joo Shin),이미화(Mee Wha Lee),이유미(You Me Lee),조진호(Jin Ho Cho),최윤정(Yun Jung Choi),권계원(Kae Won Kwon) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.2
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.