| Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. | |
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MedLine Citation:
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PMID: 18492087 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears. One sibling had a cleft palate. Initially, blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected; however, mutation of the FOXL2 gene was not detected. Moreover, the patients' father and paternal grandmother had experienced recurrent episodes of unilateral brachial neuritis and were diagnosed to have hereditary neuralgic amyotrophy (HNA). HNA is a rare, inherited form of brachial neuritis whose phenotypic spectrum may include hypotelorism, cleft palate and other minor dysmorphisms. HNA maps to chromosome 17q25 and is associated with mutations in the SEPT9 gene. After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack. Both children were shown to have inherited the paternal SEPT9 mutation. Wider recognition of HNA as a syndromic disorder may facilitate its diagnosis in affected young persons who may not yet have manifested episodes of brachial neuritis. |
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Authors:
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F Laccone; M C Hannibal; J Neesen; W Grisold; P F Chance; H Rehder |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2008-05-19 |
Journal Detail:
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Title: Clinical genetics Volume: 74 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-10-10 Completed Date: 2008-11-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 279-83 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Medical University of Vienna, Vienna, Austria. franco.laccone@meduniwien.ac.at |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Blepharophimosis / genetics Blepharoptosis / genetics Brachial Plexus Neuritis / genetics* Child, Preschool Family Female GTP Phosphohydrolases / genetics* Humans Infant Male Mutation* Phenotype Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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R01-NS38181/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.6.1.-/GTP Phosphohydrolases; EC 3.6.1.-/SEPT9 protein, human |
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