Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases.
Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares. In this report two additional cases are presented, one of them without central nervous system and/or ocular anomalies.
Guion-Almeida
M L
ML
Departamento de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
Kokitsu-Nakata
N M
NM
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed