Indian Journal of Human Genetics
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CASE REPORT
Year : 2013  |  Volume : 19  |  Issue : 3  |  Page : 363-365

Hypoparathyroidism-retardation-dysmorphism syndrome


Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India

Correspondence Address:
Kalenahalli Jagadish Kumar
Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.120814

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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.


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