Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype.
Kokitsu-Nakata
Nancy Mizue
NM
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Sao Paulo, Brazil. nancykn@centrinho.usp.br
Pittoli
Siulan Vendramini Paulovich
SV
da Costa
Antonio Richieri
AR
D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D009666:Nose / Q000002:abnormalities* / Q000473:pathology; D010641:Phenotype; D012720:Severity of Illness Index; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014463:Ultrasonography