A case of fetal skelectal anomaly of Campomelic syndrome.
- Author:
Suk Kyung KIM
;
Hyeon Chul KIM
;
Seung Joo SHIN
;
Mee Wha LEE
;
You Me LEE
;
Jin Ho CHO
;
Yun Jung CHOI
;
Kae Won KWON
- Publication Type:Case Report
- Keywords:
Campomelic syndrome;
skeletal anomaly;
genetic heterogeneity
- MeSH:
Amenorrhea;
Campomelic Dysplasia*;
Congenital Abnormalities;
Cytogenetics;
Extremities;
Female;
Genetic Heterogeneity;
Humans;
Incidence;
Karyotype;
Palate;
Shoulder
- From:Korean Journal of Obstetrics and Gynecology
2000;43(2):311-314
- CountryRepublic of Korea
- Language:Korean
-
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.
