Hypoparathyroidism-retardation-dysmorphism syndrome.

Indian J Hum Genet

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

Published: July 2013

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841568PMC
http://dx.doi.org/10.4103/0971-6866.120814DOI Listing

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