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.

New Classification Scheme of Proboscis Lateralis Based on a Review of 50 Cases

“…Eight of 11 cases classified as group III and four of six cases classified as group IV had a single nostril. The other five cases had two nostrils, but the nostrils on their affected side were micronostrils (Kirkpatrick, 1970; Bowe, 1986; Guion-Almeida et al, 2007).…”

“…The other 10 cases associated with a visible encephalocele had encephalopathy and most died at an early age; long-term survival cases suffered developmental delay and mental retardation (Table 6) (Antoniades and Baraister, 1989; Gilbert-Barness et al, 2001; Harada and Muraoka, 2001; Guion-Almeida et al, 2007). Some of these were diagnosed as cerebro-oculo-nasal syndrome (Chen et al, 1999).…”

Correction of Unilateral Nostril Hypoplasia with Z-Plasty in a Child

“…Similar phenotypic appearances are also found in patients with craniofacial cleft [ 1 , 2 ]. There are several reports of patients with cerebro-oculo-nasal syndrome with abnormal nares, and Richieri-Costa and Ribeiro [ 7 , 8 ] had reported a case of atypical interhemispheric fusion with a functional single nostril [ 9 ]. However, the general facial appearances in those cases were different from the facial appearance of the patient presented here.…”

Cerebro‐oculo‐nasal syndrome: Report of a case with a severe phenotype

“…Clinical findings consisted of mental retardation; structural anomalies of the central nervous system, including encephaloceles, ventricular dilatation, abnormalies of the corpus callosum, multicystic lesions, gyral/neuronal migration anomalies, Dandy-Walker malformation, and holoprosencephaly; ocular alterations such as anophthalmia, microphthalmia or normal eyes; and a unique nasal configuration-proboscislike nares. All cases have occurred sporadically and no consanguinity has been noted [Guion-Almeida et al, 2007]. The cause remains unknown except for one patient with a PTCH1 mutation [Ribeiro et al, 2006].…”