TITLE

Hypoparathyroidism-retardation-dysmorphism syndrome

AUTHOR(S)
Kumar, Kalenahalli Jagadish; Kumar, Halasahalli Chowdegowda Krishna; Manjunath, Vadambal Gopalakrishna; Mamatha, Sangaraju
PUB. DATE
September 2013
SOURCE
Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p363
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
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.
ACCESSION #
91920297

 

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