| Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency. | |
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MedLine Citation:
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PMID: 17372585 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors report on a patient with mild cranio-facial abnormalities observed at birth and growth hormone deficiency, which later developed a typical Kearns-Sayre syndrome. Facial abnormalities are similar to those reported in the fetal alcohol syndrome (a typical neural crest syndrome). In the authors' opinion, they could be an abnormality of neural crest cell development or migration, due to expression of antenatal oxidative phosphorylation deficiency in neural crest cells or to an interference of defective oxidative phosphorylation with neural crest cells signal(s). On this ground, the Kearns-Sayre syndrome can be considered a neurocristopathy and the studies on this syndrome should take into account those diseases commonly associated with neurocristopathies (i.e. facial, endocrine, osseous, cardiovascular and of peripheral nerve system). |
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Authors:
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A Berio; A Piazzi |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Minerva medica Volume: 98 ISSN: 0026-4806 ISO Abbreviation: Minerva Med. Publication Date: 2007 Feb |
Date Detail:
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Created Date: 2007-03-20 Completed Date: 2007-06-19 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0400732 Medline TA: Minerva Med Country: Italy |
Other Details:
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Languages: eng Pagination: 81-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, DIPE, University of Genoa, Genoa, Italy. luigimassone@ospedale-gaslini.it |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Cytochrome-c Oxidase Deficiency / complications* Face / abnormalities* Facies Female Growth Hormone / deficiency* Humans Kearns-Sayre Syndrome / etiology* Maxilla / abnormalities* |
| Chemical | |
Reg. No./Substance:
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9002-72-6/Growth Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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