Korean J Obstet Gynecol.  2000 Feb;43(2):311-314.

A case of fetal skelectal anomaly of Campomelic syndrome

• Kim SK
• Kim HC
• Shin SJ
• Lee MW
• Lee YM
• Cho JH
• Choi YJ
• Kwon KW

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.

Keyword

Campomelic syndrome; skeletal anomaly; genetic heterogeneity

MeSH Terms

Amenorrhea
Campomelic Dysplasia*
Congenital Abnormalities
Cytogenetics
Extremities
Female
Genetic Heterogeneity
Humans
Incidence
Karyotype
Palate
Shoulder