| Necrotizing enterocolitis in a premature infant as the presenting symptom of familial dysautonomia in the neonatal period: case report and review of the literature. | |
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MedLine Citation:
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PMID: 16215920 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a case of a premature infant with early-onset necrotizing enterocolitis as the presenting symptom of familial dysautonomia. The diagnosis of familial dysautonomia in the neonatal period is usually rare and difficult, because many of the symptoms may be mild or nonspecific, whereas other characteristic signs and symptoms appear only later in life. The neonatologist should be aware of this rare diagnosis in the neonatal period, especially in the offspring of Ashkenazi Jews. The diagnosis is genetic. Preconception counseling to future parents belonging to populations at risk should include recommendation for genetic screening test to identify carriers of the mutations in the familial dysautonomia gene. |
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Authors:
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Shay Barak; Arieh Riskin; Amir Kugelman; Martha Abend-Weinger; Irena Chistyakov; David Bader |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of perinatology Volume: 22 ISSN: 0735-1631 ISO Abbreviation: Am J Perinatol Publication Date: 2005 Oct |
Date Detail:
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Created Date: 2005-10-10 Completed Date: 2006-01-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8405212 Medline TA: Am J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 353-5 Citation Subset: IM |
Affiliation:
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Department of Neonatology, Bnai Zion Medical Center, The B. Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Dysautonomia, Familial
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complications,
diagnosis* Enterocolitis, Necrotizing / complications* Female Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases / diagnosis* Jews |
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