A case of fetal skelectal anomaly of Campomelic syndrome / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 311-314, 2000.
Artículo
en Coreano
| WPRIM
| ID: wpr-187992
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hueso Paladar
/
Hombro
/
Anomalías Congénitas
/
Incidencia
/
Heterogeneidad Genética
/
Citogenética
/
Extremidades
/
Displasia Campomélica
/
Cariotipo
/
Amenorrea
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
2000
Tipo del documento:
Artículo
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