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- W2201440145 abstract "The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer risks of multiple medical complications later in life, including an increased risk of cancer. Some IBMFS may present with cytopenias in the neonatal period whereas others may present only with congenital physical abnormalities and progress to pancytopenia later in life. A thorough family history and detailed physical examination are integral to the work-up of any neonate in whom there is a high index of suspicion for an IBMFS. Correct detection and diagnosis of these disorders is important for appropriate long-term medical surveillance and counseling not only for the patient but also for appropriate genetic counselling of their families regarding recurrence risks in future children and generations." @default.
- W2201440145 created "2016-06-24" @default.
- W2201440145 creator A5006363663 @default.
- W2201440145 creator A5042789911 @default.
- W2201440145 date "2016-02-01" @default.
- W2201440145 modified "2023-10-17" @default.
- W2201440145 title "Neonatal manifestations of inherited bone marrow failure syndromes" @default.
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- W2201440145 doi "https://doi.org/10.1016/j.siny.2015.12.003" @default.
- W2201440145 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4747853" @default.
- W2201440145 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26724991" @default.
- W2201440145 hasPublicationYear "2016" @default.
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