Abstract
The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome. This syndrome includes congenital aplasia of the cutis, aplasia of the alae nasi, bilateral hearing loss, dental malformations and pancreatic insufficiency. Case report – We report a sporadic case male infant from nonconsanguineous parents. He presented aplasia of the cutis and high anorectal malformation, associated with exocrine pancreatic insufficiency. A colostomy was performed at birth and anorectal atresia was corrected surgically at two months. Exocrine pancreatic insufficiency required immediate enzyme supplementation.
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