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Johanson-Blizzard syndrome

Pronunciation: yo-hahn'son bliz'ard

Definition: a clinical syndrome manifested by pancreatic insufficiency, scalp defects, aplasia of the alae nasi, deafness, low birthweight, microcephaly, psychomotor delay, hypothyroidism, dwarfism, and missing permanent teeth.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.