Johanson--blizzard syndrome.
Indian J Pediatr
;
2004 Dec; 71(12): 1127-9
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Syndrome
/
Malformations multiples
/
Femelle
/
Humains
/
Nouveau-né
/
Prématuré
/
Dysplasie ectodermique
/
Issue fatale
/
Taches café-au-lait
/
Malformations crâniofaciales
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2004
Type:
Article
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