[Shwachman-Diamond syndrome: a case report]. / Le syndrome de Shwachman-Diamond : à propos d'un cas.
Ann Biol Clin (Paris)
; 76(4): 435-438, 2018 08 01.
Article
em Fr
| MEDLINE
| ID: mdl-30078780
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Pancreática Exócrina
/
Doenças da Medula Óssea
/
Lipomatose
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
Fr
Revista:
Ann Biol Clin (Paris)
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
França