Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.
Cerebro-oculo-nasal syndrome (CONS) is characterized by structural anomalies of the central nervous system (encephalocele, ventricular dilatation, defects of corpus callosum, and even holoprosencephaly in one instance), by ocular alterations ranging from anophthalmia/microphthalmia to normal eyes, and by proboscis-like nares. Here, we report on 13 new cases with CONS, review 7 previously published cases, and evaluate the findings in all 20 patients. Despite marked variability among cases, the nasal configuration appears to be unique and diagnostic. Although one patient had a mutation in the PTCH gene, the cause of all other cases remains unknown to date.
Guion-Almeida
Maria Leine
ML
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
Zechi-Ceide
Roseli Maria
RM
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001938:Brazil; D002648:Child; D003337:Corpus Callosum / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis; D005124:Eye Abnormalities / Q000175:diagnosis / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D007223:Infant; D008297:Male; D009154:Mutation; D009666:Nose / Q000002:abnormalities* / Q000473:pathology