Holoprosencephaly and Holoprosencephaly-Like Phenotypes: Review of Facial and Molecular Findings in Patients From a Craniofacial Hospital in Brazil

Autor(es)

Richieri-Costa, Antonio ^[1] ; Ribeiro, Lucilene Arilho ^[2]

Afiliação do(s) autor(es)

^[1] HRAC USP, Dept Genet, BR-17043012 Bauru, SP - Brazil

^[2] Univ Sao Paulo, Hosp Reabilitacao Anomalias Craniofaciais, Mol Genet Lab, Bauro, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS; v. 154C, n. 1, p. 149-157, FEB 15 2010.
• Citações Web of Science: 7

Resumo

Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitacao de Anomalas Craniofaciais-Universidade de Sao Paulo (HRAC-USP) who presented with either the classic holoprosencephaly or the holoprosencephaly-like (HPE-L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center. The HPE-L phenotype has been also called of HPE `'minor forms{''} or ``microforms,{''} The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip/palate are discussed. (c) 2010 Wiley-Liss, Inc. (AU)

• Processo FAPESP: 06/60973-9 - Analise mutacional dos genes shh, tgif, six3, zic2, ptch e gli2 nas anomalias craniofaciais e alteracoes do desenvolvimento do sistema nervoso central.
• Beneficiário: Lucilene Arilho Ribeiro Bicudo
• Modalidade de apoio: Auxílio à Pesquisa - Regular