A case of fetal skelectal anomaly of Campomelic syndrome / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
; : 311-314, 2000.
Article
in Ko
| WPRIM
| ID: wpr-187992
Responsible library:
WPRO
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
Full text:
1
Database:
WPRIM
Main subject:
Palate
/
Shoulder
/
Congenital Abnormalities
/
Incidence
/
Genetic Heterogeneity
/
Cytogenetics
/
Extremities
/
Campomelic Dysplasia
/
Karyotype
/
Amenorrhea
Type of study:
Incidence_studies
/
Prognostic_studies
Limits:
Female
/
Humans
Language:
Ko
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
2000
Document type:
Article