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Korean Journal of Obstetrics & Gynecology 2000;43(7):1276-1281.
Published online January 1, 2001.
A Case of Recurrent Holoprosencephaly.
Jong Seok Kim, Jong Rak Choi, Chul Wan Jung, Kyung Seo, Jung Yeol Kim, Youn Joon Sung
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.
Key Words: Recurrent holoprosencephaly, Proboscis, Cyclopia


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