The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies

Clin Dysmorphol. 1997 Jul;6(3):233-7. doi: 10.1097/00019605-199707000-00006.

Abstract

We report a child from a highly inbred Omani family with hypoparathyroidism, growth failure, developmental delay and a distinctive facial appearance. Thirty cases with this syndrome have been previously reported; 22 came from the Arab Gulf Countries and eight were Arabs living in Israel. These cases are reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Consanguinity
  • Developmental Disabilities / genetics*
  • Face / abnormalities*
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Humans
  • Hypoparathyroidism / congenital
  • Hypoparathyroidism / genetics*
  • Infant
  • Male
  • Phenotype
  • Syndrome