Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome?

Semerci, C. Nur; Zorlu, Pelin; Topal, Yaşar; Izbudak, Izlem; Karacan, Can Demir; Balcí, Sevim

doi:10.1002/ajmg.a.20232

Cited by 5 publications

(1 citation statement)

References 19 publications

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“…CONS is so unique that differential diagnosis is extremely limited. Two patients with some similarities to CONS, but without the characteristic nasal configuration and with other anomalies at variance with CONS represent a separate condition or conditions [Gupta et al, 2003; Semerci et al, 2003]. The patient reported by Gupta et al 2003 has been defined as a newly recognized syndrome by Guion‐Almeida et al 2007.…”

Section: Discussionmentioning

confidence: 99%

Cerebro‐oculo‐nasal syndrome: 13 new Brazilian cases

Guion‐Almeida

Zechi-Ceide

Richieri-Costa

2007

American J of Med Genetics Pt A

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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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Section: Discussionmentioning

confidence: 99%