JOHANSSON BLIZZARD SYNDROME

Journal: University Journal of Medicine and Medical Specialities (Vol.3, No. 3)

Publication Date: 2017-04-13

Authors : SAJINI RAMAKRISHNAN;

Page : 128-129

Keywords : :Johansson Blizzard syndrome; hypoplastic alae nasi; hypothyroidism; autosomal recessive;

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Abstract

Johansson Blizzard syndrome is an extremely rare autosomal recessive multisystem congenital disorder featuring abnormal development of pancreas, nose and scalp with mental retardation, hearing loss and growth failure sometimes described as a form of ectodermal dysplasia. Here we are reporting a female neonate with the characteristic features.

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JOHANSSON BLIZZARD SYNDROME

Abstract

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