Hypoparathyroidism-retardation-dysmorphism syndrome.

Kumar, Kalenahalli Jagadish; Kumar, Halasahalli Chowdegowda Krishna; Manjunath, Vadambal Gopalakrishna; Mamatha, Sangaraju

Kumar, Kalenahalli Jagadish; Kumar, Halasahalli Chowdegowda Krishna; Manjunath, Vadambal Gopalakrishna; Mamatha, Sangaraju.

Indian J Hum Genet ; 2013 July-Sept ;19 (3): 363-365

Article in English | IMSEAR | ID: sea-156595

ABSTRACT

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

Hindu; hypoparathyroidism-retardationdysmorphism syndrome; Sanjad‑Sakati syndrome

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Osteochondrodysplasias / Parents / Seizures / Abnormalities, Multiple / Female / Humans / Male / Adolescent / Consanguinity / Adult Language: English Journal: Indian J Hum Genet Year: 2013 Type: Article

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