Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.
Arch Dis Child
; 66(10): 1191-4, 1991 Oct.
Article
em En
| MEDLINE
| ID: mdl-1719942
ABSTRACT
Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. All the children died within the first 15 months of life despite treatment. Postmortem examination on one child showed absent parathyroid glands. We believe these children represent a previously undescribed syndrome that appears to be inherited in an autosomal recessive manner.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
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Genes Recessivos
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Hipoparatireoidismo
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Falência Renal Crônica
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
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Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article