Year: 2013
Type: article
Study design: Case Report
Abstract: A Case of Shwachman Diamond Syndrome in Neonate Shwachman Diamond Syndrome (SDS) is a rare autosomal recessive disease characterized with bone marrow dysfunction, exocrine pancreatic insufficiency, growth and developmental delay and skeletal abnormalities. The condition which is recognized as a bone marrow failure ranks at the 3rd row of a disease which is frequently seen after Fanconi anemia and Diamond-Blackfan anemia and it’s incidence is nearly 1/75000. Usually, diagnosis is possible at early childhood due to hematological disorders. In this article, a newborn diagnosed with Shwachman-Diamond Syndrome (SDS) and having persisting neutropenia is presented.
Source: Çocuk Dergisi / Journal of Child
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2327459760