title: Cerebrofaciothoracic syndrome.
abstract: We report on a patient with a large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described with this distinctive phenotype. Autosomal recessive inheritance seems likely.
authors.affiliation: Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brazil.
authors.forename: M L
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: D
authors.initials: D
authors.lastname: Saavedra
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities*