Johanson-Blizzard syndrome with Diamond-Blackfan anemia

Department of Neurology, The Children's Hospital, Al Taif, Kingdom of Saudi Arabia.
Journal of the College of Physicians and Surgeons--Pakistan: JCPSP (Impact Factor: 0.35). 09/2010; 20(9):627-8.
Source: PubMed


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, café-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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