[Cerebro-oculo-nasal syndrome: a case report]

ABSTRACT

The most common congenital defect involving the face and jaws is cleft lip and palate. Exactly where they appear is determined by the locations at which fusion of the various facial processes failed to occur. The lip or the lip and palate together fail to close in approximately 1-1.5 in every 1,000 babies born. The presence of cleft lip and palate raises suspiscion to cerebro-oculo-nasal syndrome especially when accompanied by anophthalmia, mental retardation and hypoplasia of nares. In this article, one case of a 4-year-old boy with cerebro-oculo-nasal syndrome who had anophthalmia, median cleft lip and palate, a CNS defect and mental retardation has been reported. Discussion and Coclusion Although anophthalmia is a rare congenital defect, its presence raises suspiscion to cerebro-oculo-nasal syndrome especially when accompanied by cleft lip and palate, mental retardation and hypoplasia of nares. Therefore, we can conclude that in patients with cleft of upper lip, hypoplasia of nares and anophthalmia, cerebro-oculo-nasal syndrome, must be considered. Since these abnormalities are also seen in Fraser syndrome the absence of digital and renal defects differentiates cerebro-oculo-nasal syndrome