Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs

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Abstract

We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral fissures, a narrow nose with hypoplasia of the alae nasi, a small philtrum and a thin upper lip. We suggest that the combination of abnormalities in these children represents a previously undescribed autosomal recessive syndrome.

Original languageEnglish
Pages (from-to)201-203
Number of pages3
JournalClinical Dysmorphology
Volume7
Issue number3
DOIs
Publication statusPublished - 1998

Keywords

  • Iris coloboma
  • Mental retardation
  • Optic atrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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