Hypoparathyroidism-retardation-dysmorphism syndrome.
Indian J Hum Genet
;
2013 July-Sept ;19 (3): 363-365
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Osteocondrodisplasias
/
Padres
/
Convulsiones
/
Anomalías Múltiples
/
Femenino
/
Humanos
/
Masculino
/
Adolescente
/
Consanguinidad
/
Adulto
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2013
Tipo del documento:
Artículo
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