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A Case of Recurrent Holoprosencephaly / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology ; : 1276-1281, 2000.
Artículo en Coreano | WPRIM | ID: wpr-209344
ABSTRACT
Holoprosencephaly(HPE), a common developmental defect affecting the forebrain and cranioface, is etiologically heterogenous. Teratogen, chromosomal anomalies, genetic syndrome, or genetic disorder of non-syndromic HPE are usually accepted as etiology. But the severity of brain and craniofacial malformation are not associated with etiology. Individuals with microform of HPE, who usually have normal cognition and brain imaging, are at the risk of having children with HPE. Several studies on the basis of HPE gene have been performed, which shed valuable insight on normal brain development. As additional HPE genes are identified, more accurate recurrent risk counseling can be given. We experienced a case of recurrent HPE diagnosed by transabdominal ultrasound examinations at 22 weeks' gestation.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Encéfalo / Holoprosencefalia / Ultrasonografía / Prosencéfalo / Cognición / Consejo / Neuroimagen / Microfilmación Tipo de estudio: Estudio diagnóstico Límite: Niño / 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: Encéfalo / Holoprosencefalia / Ultrasonografía / Prosencéfalo / Cognición / Consejo / Neuroimagen / Microfilmación Tipo de estudio: Estudio diagnóstico Límite: Niño / Humanos / Embarazo Idioma: Coreano Revista: Korean Journal of Obstetrics and Gynecology Año: 2000 Tipo del documento: Artículo