CEREBRO-OCULO-NASAL-SYNDROME - ANOTHER CASE AND REVIEW OF THE LITERATURE

Cerebro-Oculo-Nasal syndrome, a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-A lmeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the bes t of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nar es, and central nervous system anomalies. In this report, an additiona l sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and g ingiva. She also had a high-arched narrow palate, slightly low set ear s, hypertelorism, a CNS defect and mental retardation. Additional find ings were hypoplastic teeth with dental malocclusion, muscular hypoton ia and midline hyperpigmentation over the anterior neck and the abdome n. (C) Chapman & Hall Ltd.