Internal Medicine
CASE REPORTS
A Japanese Family of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation
Yosuke TogashiHiroto SakodaAkira NishimuraNaomichi MatsumotoHisatoyo HiraokaYuji Matsuzawa
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JOURNALS OPEN ACCESS

Volume 46 (2007) Issue 24 Pages 1995-2000

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Abstract

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.

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© 2007 by The Japanese Society of Internal Medicine
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