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A Case of the Holt-Oram Syndrome with Unaffected Parents Diagnosed by Antenatal Ultrasonography / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology ; : 2095-2099, 2000.
Artículo en Coreano | WPRIM | ID: wpr-161195
ABSTRACT
Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Padres / Radio (Anatomía) / Suelo / Autopsia / Pulgar / Ultrasonografía / Extremidad Superior / Extremidades / Feto / Cariotipo Tipo de estudio: Estudio diagnóstico Límite: Femenino / Humanos / Embarazo Idioma: Coreano Revista: Korean Journal of Obstetrics and Gynecology Año: 2000 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Padres / Radio (Anatomía) / Suelo / Autopsia / Pulgar / Ultrasonografía / Extremidad Superior / Extremidades / Feto / Cariotipo Tipo de estudio: Estudio diagnóstico Límite: Femenino / Humanos / Embarazo Idioma: Coreano Revista: Korean Journal of Obstetrics and Gynecology Año: 2000 Tipo del documento: Artículo