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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

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Hypoparathyroidism-retardation-dysmorphism syndrome.

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]

PMID: 24339556

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Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center.

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