Johanson--blizzard syndrome.
Indian J Pediatr
;
2004 Dec; 71(12): 1127-9
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Síndrome
/
Anomalías Múltiples
/
Femenino
/
Humanos
/
Recién Nacido
/
Recien Nacido Prematuro
/
Displasia Ectodérmica
/
Resultado Fatal
/
Manchas Café con Leche
/
Anomalías Craneofaciales
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2004
Tipo del documento:
Artículo
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