Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

L. I. Al-Gazali, D. Bakalinova

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.

Original languageEnglish
Pages (from-to)177-184
Number of pages8
JournalClinical Dysmorphology
Volume7
Issue number3
DOIs
Publication statusPublished - 1998

Keywords

  • Autosomal recessive
  • Epiphyseal dysplasia
  • Frontal lobe atrophy
  • Lynphoedema
  • Macrocephaly

ASJC Scopus subject areas

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

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