A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents

L. I. Al Gazali, K. Sabrinathan, K. G.R. Nair

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

Abstract

We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.

Original languageEnglish
Pages (from-to)55-62
Number of pages8
JournalClinical Dysmorphology
Volume3
Issue number1
DOIs
Publication statusPublished - 1994

Keywords

  • Autosomal recessive
  • Developmental delay
  • Optic atrophy
  • Osteogenesis imperfecta
  • Retinopathy

ASJC Scopus subject areas

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

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