Hypoparathyroidism-retardation-dysmorphism syndrome.

ABSTRACT: Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.

SUBMITTER: Kumar KJ 

PROVIDER: S-EPMC3841568 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature