RESUMO
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.
Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Adolescente , Adulto , Consanguinidade , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/genética , Humanos , Masculino , Hipoparatireoidismo/epidemiologia , Hipoparatireoidismo/genética , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Pessoa de Meia-Idade , Osteocondrodisplasias/epidemiologia , Osteocondrodisplasias/genética , Pais , Convulsões/epidemiologia , Convulsões/genéticaRESUMO
Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.