Holoprosencephaly--report of two cases.
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.
Granato
Lídio
L
Department of Otorhinolaryngology, Santa Casa de São Paulo, Faculty of Medical Sciences, São Paulo, Brazil. drlidio@terra.com.br
Pinto
Carla Franchi
CF
de Castro
Ney Penteado
NP
Rocha
Antonio
A
Bellido Rios
Oswaldo Angel
OA
D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology