Johanson-blizzarci syndrome with diamond-blackfan anemia
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2010; 20 (9): 627-628
Dans Anglais
| IMEMR
| ID: emr-97652
ABSTRACT
Johanson Blizzard syndrome [JBS] is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, cafe-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Johanson Blizzard syndrome with classical clinical features, pancreatic insufficiency and Diamond-Blackfan anemia
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Indice:
Méditerranée orientale
Sujet Principal:
Insuffisance pancréatique exocrine
/
Syndrome
/
Malformations multiples
/
Dysplasie ectodermique
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Anglais
Texte intégral:
J. Coll. Physicians Surg. Pak.
Année:
2010
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