Holoprosencephaly--report of two cases.

Int J Pediatr Otorhinolaryngol

Department of Otorhinolaryngology, Santa Casa de São Paulo, Faculty of Medical Sciences, São Paulo, Brazil.

Published: November 2005

Holoprosencephaly (HPE) is a developmental defect resulting from incomplete cleavage of the embryonic forebrain structures during early embryogenesis. It includes a series of rare complex disorders. Chromosomal abnormalities, single gene disorders and teratogenic agents are responsible for holoprosencephaly. We report two rare cases of alobar HPE with a rudimental nasal structure (proboscis) located under the eyes. One of the patients survived for 9 months and the other one survived 40 days.

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http://dx.doi.org/10.1016/j.ijporl.2005.04.031DOI Listing

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