[Johanson-Blizzard syndrome: a case report].
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.


METHODS
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.
Mcheik
J N
JN
Service de chirurgie pédiatrique, centre hospitalo-universitaire de Poitiers, rue de la milétrie, 86021 Poitiers, France. jiadmcheik@yahoo.fr
Hendiri
L
L
Vabres
P
P
Berthier
M
M
Cardona
J
J
Bonneau
D
D
Levard
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001003:Anal Canal / Q000002:abnormalities; D001006:Anus, Imperforate / Q000601:surgery; D003125:Colostomy; D010188:Exocrine Pancreatic Insufficiency / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012007:Rectum / Q000002:abnormalities; D012871:Skin Diseases / Q000473:pathology*; D013577:Syndrome