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Hypoparathyroidism-retardation-dysmorphism syndrome |
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| Authors: | Kalenahalli Jagadish Kumar Halasahalli Chowdegowda Krishna Kumar Vadambal Gopalakrishna Manjunath Sangaraju Mamatha |
| Affiliation: | Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India |
| 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. |
| Keywords: | Hindu hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome |