title: Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: Roseli Maria
authors.initials: RM
authors.lastname: Zechi-Ceide
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: 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