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Shwachman-Diamond Syndrome
| Content Provider | Scilit |
|---|---|
| Author | Andolina, Jeffrey R. Morrison, Colleen B. Thompson, Alexis A. Chaudhury, Sonali Mack, A. Kyle Proytcheva, Maria Corey, Seth J. |
| Copyright Year | 2013 |
| Description | Journal: Journal of pediatric hematology/oncology Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption. Both patients had the classic heterozygous mutations c183_184 TA>CT and c.258+2 T>C in the Shwachman-Bodian-Diamond syndrome gene. Incomplete phenotypes may be more common than previously recognized in bone marrow failure syndromes; gastrointestinal symptoms should not be considered a prerequisite for SDS. |
| Related Links | http://europepmc.org/articles/pmc3514592?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514592/pdf |
| Ending Page | 489 |
| Page Count | 4 |
| Starting Page | 486 |
| ISSN | 10774114 |
| e-ISSN | 15363678 |
| DOI | 10.1097/mph.0b013e3182667c13 |
| Journal | Journal of pediatric hematology/oncology |
| Issue Number | 6 |
| Volume Number | 35 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2013-08-01 |
| Access Restriction | Open |
| Subject Keyword | Journal: Journal of pediatric hematology/oncology Pediatrics and Child Health Shwachman-diamond Syndrome, Neutropenia, Diarrhea, Exocrine Pancreatic Insufficiency |
| Content Type | Text |
| Resource Type | Article |
| Subject | Hematology Pediatrics, Perinatology and Child Health Oncology |
