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Holoprosencephaly--report of two cases
Lídio Granato1, Carla Franchi Pinto, Ney Penteado de Castro
1Department of Otorhinolaryngology, Santa Casa de São Paulo, Faculty of Medical Sciences, São Paulo, Brazil. drlidio@terra.com.br
Abstract:
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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