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

Clin Dysmorphol. 1998 Jul;7(3):177-84. doi: 10.1097/00019605-199807000-00004.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Atrophy
  • Child
  • Consanguinity
  • Craniofacial Abnormalities*
  • Facies*
  • Female
  • Frontal Lobe / pathology
  • Genes, Recessive*
  • Humans
  • Male
  • Osteochondrodysplasias*
  • Pedigree
  • Radiography
  • Syndrome