Ontology highlight
ABSTRACT:
SUBMITTER: Kumar KJ
PROVIDER: S-EPMC3841568 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Kumar Kalenahalli Jagadish KJ Kumar Halasahalli Chowdegowda Krishna HC Manjunath Vadambal Gopalakrishna VG Mamatha Sangaraju S
Indian journal of human genetics 20130701 3
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. ...[more]