Cerebrofaciothoracic syndrome.
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.
Guion-Almeida
M L
ML
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brazil.
Richieri-Costa
A
A
Saavedra
D
D
Cohen
M M
MM
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*