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Genet Couns. 2013;24(1):1-5.

Prenatal detection of Pai syndrome without cleft lip and palate: a case report.

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1
Department of Medical Genetics, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey. zeynep_ipek@yahoo.com

Abstract

Pai syndrome is a rarely encountered disease characterized by findings of median cleft lip, facial skin polyps, nasal mucosal polyps and midline central nervous system lipoma. We report a case with prenatal detection of a pericallosal lipoma and a skin tag on the forehead. After delivery, the diagnosis was confirmed as a case of Pai syndrome.

PMID:
23610859
[Indexed for MEDLINE]
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