Shwachman-Diamond syndrome: a case report.

Abstract:

:Shwachman-Diamond syndrome is a constitutional disorder characterized by exocrine pancreatic failure and neutropenia with dysgranulopoiesis. It is a rare disease, with less than 100 cases reported in France. Here we report the case of a 23-year-old woman with this syndrome. The clinical feature and the diagnostic steps are described, as well as the evolution and management in medical and laboratory medicine practice.

journal_name

Ann Biol Clin (Paris)

authors

Kaabar M,Lemaire P,Cussac V,Besancon A,Martin-Coignard D,Fenneteau O,Laribi K,Pineau-Vincent F

doi

10.1684/abc.2018.1358

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

435-438

issue

4

eissn

0003-3898

issn

1950-6112

pii

abc.2018.1358

journal_volume

76

pub_type

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