Johanson--blizzard syndrome.
Indian J Pediatr
; 2004 Dec; 71(12): 1127-9
Article
em En
| IMSEAR
| ID: sea-81127
ABSTRACT
Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.
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IMSEAR
Assunto principal:
Síndrome
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Anormalidades Múltiplas
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Feminino
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Humanos
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Recém-Nascido
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Recém-Nascido Prematuro
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Displasia Ectodérmica
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Evolução Fatal
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Manchas Café com Leite
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Anormalidades Craniofaciais
Idioma:
En
Revista:
Indian J Pediatr
Ano de publicação:
2004
Tipo de documento:
Article