Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. 1798 75