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 factorbeta 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.
Original language | English |
---|---|
Pages (from-to) | 1995-2000 |
Number of pages | 6 |
Journal | Internal Medicine |
Volume | 46 |
Issue number | 24 |
DOIs | |
Publication status | Published - 2007 |
Externally published | Yes |
Keywords
- Aortic aneurysm and dissection
- Arterial tortuosity
- Loeys-Dietz syndrome
- Marfan syndrome
- Transforming growth factor-beta receptor
ASJC Scopus subject areas
- Internal Medicine