Volume : II, Issue : X, October - 2013

Johanson Blizzard Syndrome

Dr Sunil Kumar B M, Dr Vishwas S N, Dr Sathish Kumar K M, Dr Aftab Ahmed

Abstract :

Johanson Blizzard syndrome is a rare syndrome with distinctive facial features, exocrine pancreatic insufficiency, deafness, hypothyroidism and failure to thrive. Congenital heart defects, moderate to severe mental retardation have been described with Johanson Blizzard syndrome; other features associated with Johanson Blizzard syndrome include oligodontia of permanent teeth, scalp defects, imperforate anus, lacrimal duct fistula, cardiac and CNS anomalies. We describe a 5 month old male infant with classical clinical features with an uncommon association of renal pelvicalyectesia.

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Article: Download PDF   DOI : 10.36106/ijsr  

Cite This Article:

Dr Sunil Kumar B M, Dr Vishwas S N, Dr Sathish Kumar K M, Dr Aftab Ahmed / Johanson Blizzard Syndrome / International Journal of Scientific Research, Vol.2, Issue.10 October 2013

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