Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets

Am J Med Genet A. 2005 Jun 1;135(2):200-1. doi: 10.1002/ajmg.a.30666.

Abstract

We report female triplets with the clinical and biochemical manifestations of hypoparatyroidism-retardation-dysmorphism (HRD) syndrome also known as Sanjad-Sakati syndrome. They were born at 35 weeks gestation after assisted pregnancy (in vitro fertilization). The parents are first degree cousins from Saudi Arabia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Calcifediol / administration & dosage
  • Calcifediol / therapeutic use
  • Calcium / administration & dosage
  • Calcium / blood
  • Calcium / therapeutic use
  • Consanguinity
  • Face / abnormalities*
  • Female
  • Humans
  • Hypoparathyroidism / pathology*
  • Infant
  • Phosphorus / blood
  • Psychomotor Disorders / pathology*
  • Saudi Arabia
  • Syndrome
  • Triplets

Substances

  • Phosphorus
  • Calcifediol
  • Calcium