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Indian J Hum Genet ; 2013 July-Sept ;19 (3): 363-365
Article in English | IMSEAR | ID: sea-156595

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.


Subject(s)
Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/genetics , Adolescent , Adult , Consanguinity , Female , Growth Disorders/epidemiology , Growth Disorders/genetics , Humans , Male , Hypoparathyroidism/epidemiology , Hypoparathyroidism/genetics , Intellectual Disability/epidemiology , Intellectual Disability/genetics , Middle Aged , Osteochondrodysplasias/epidemiology , Osteochondrodysplasias/genetics , Parents , Seizures/epidemiology , Seizures/genetics
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