Document Detail

A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
MedLine Citation:
PMID:  18084123     Owner:  NLM     Status:  MEDLINE    
This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patient's father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome.
Yosuke Togashi; Hiroto Sakoda; Akira Nishimura; Naomichi Matsumoto; Hisatoyo Hiraoka; Yuji Matsuzawa
Related Documents :
20384723 - Frameshift mutations of the arx gene in familial ohtahara syndrome.
19279983 - Ventricular tachycardia in a brugada syndrome patient caused by a novel deletion in scn5a.
17686763 - Micromorphology of the labellum and floral spur of cryptocentrum benth. and sepalosaccu...
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-12-17
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  46     ISSN:  1349-7235     ISO Abbreviation:  Intern. Med.     Publication Date:  2007  
Date Detail:
Created Date:  2007-12-17     Completed Date:  2008-01-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  1995-2000     Citation Subset:  IM    
Department of Internal Medicine, Sumitomo Hospital, Osaka.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Craniofacial Abnormalities / diagnosis,  genetics*
Diagnosis, Differential
Hypertelorism / diagnosis,  genetics*
Marfan Syndrome / classification,  diagnosis,  genetics
Middle Aged
Mutation, Missense / genetics
Protein-Serine-Threonine Kinases / genetics*
Receptors, Transforming Growth Factor beta / genetics*
Uvula / abnormalities
Vascular Malformations / diagnosis,  genetics*
Reg. No./Substance:
0/Receptors, Transforming Growth Factor beta; EC Kinases; EC growth factor-beta type II receptor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Coronary slow flow phenomenon caused by contrast-induced microvascular spasm.
Next Document:  Biopsy-proven tuberculous meningitis mimicking CNS sarcoidosis.