Johanson--blizzard syndrome.
Indian J Pediatr
;
2004 Dec; 71(12): 1127-9
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Abnormalities, Multiple
/
Female
/
Humans
/
Infant, Newborn
/
Infant, Premature
/
Ectodermal Dysplasia
/
Fatal Outcome
/
Cafe-au-Lait Spots
/
Craniofacial Abnormalities
Language:
English
Journal:
Indian J Pediatr
Year:
2004
Type:
Article
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