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| Savastano,Clarice Pagani; El-Jaick,Kênia Balbi; Costa-Lima,Marcelo Aguiar; Abath,Cristina Maria Batista; Bianca,Sebastiano; Cavalcanti,Denise Pontes; Félix,Têmis Maria; Scarano,Gioacchino; Llerena Jr,Juan Clinton; Vargas,Fernando Regla; Moreira,Miguel Ângelo Martins; Seuánez,Hector N.; Castilla,Eduardo Enrique; Orioli,Iêda Maria. |
| Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Holoprosencephaly; ECLAMC; SHH; ZIC2; SIX3. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011 |
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