title: Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.
abstract: Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitação de Anomalas Craniofaciais-Universidade de São 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.
authors.affiliation: Department of Clinical Genetics, Hospital de Reabilitação de Anornalias Craniofaciais, Universidade de São Paulo, Bauro, S.P., Brazil. richieri@usp.br
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
mesh_terms: D001938:Brazil; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000209:etiology; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities; D016142:Holoprosencephaly / Q000145:classification* / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006761:Hospitals; D006801:Humans; D010641:Phenotype