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- Title
Management challenges in Shwachman-Diamond syndrome.
- Authors
Omer, Mohamed; Ewadh, Muna; Redman, Melody Grace; Rajesh, Uma; Mullins, Nicola
- Abstract
Shwachman-Diamond syndrome (SDS) is a rare disorder, characterised by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of malabsorption and neutropenia with associated risk of infection. SDS is mainly inherited in an autosomal recessive manner, with most pathogenic variants found in the SBDS gene. This case report describes the challenging clinical presentation of a neonate born at 35 weeks' gestation with SDS and homozygous variants in the EFL1 gene.
- Subjects
GENETIC mutation; AMNIOCENTESIS; SILDENAFIL; SEQUENCE analysis; GRANULOCYTE-colony stimulating factor; INTUBATION; BLOOD transfusion; SURFACE active agents; FETAL growth retardation; GENETIC testing; MULTIPLE human abnormalities; SEPSIS; ROUTINE diagnostic tests; DEATH; BONE marrow diseases; SHWACHMAN-Diamond Syndrome; SYMPTOMS; CHILDREN
- Publication
Infant, 2021, Vol 17, Issue 6, p242
- ISSN
1745-1205
- Publication type
Article