Document Detail

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
MedLine Citation:
PMID:  18492087     Owner:  NLM     Status:  MEDLINE    
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.
F Laccone; M C Hannibal; J Neesen; W Grisold; P F Chance; H Rehder
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2008-05-19
Journal Detail:
Title:  Clinical genetics     Volume:  74     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-10-10     Completed Date:  2008-11-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  279-83     Citation Subset:  IM    
Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
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MeSH Terms
Blepharophimosis / genetics
Blepharoptosis / genetics
Brachial Plexus Neuritis / genetics*
Child, Preschool
GTP Phosphohydrolases / genetics*
Grant Support
Reg. No./Substance:
EC 3.6.1.-/GTP Phosphohydrolases; EC 3.6.1.-/SEPT9 protein, human

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