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.
MeSH terms
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Adult
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Craniofacial Abnormalities / diagnosis
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Craniofacial Abnormalities / genetics*
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Diagnosis, Differential
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Humans
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Hypertelorism / diagnosis
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Hypertelorism / genetics*
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Male
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Marfan Syndrome / classification
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Marfan Syndrome / diagnosis
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Marfan Syndrome / genetics
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Middle Aged
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Mutation, Missense / genetics
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Pedigree
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Protein Serine-Threonine Kinases / genetics*
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Receptor, Transforming Growth Factor-beta Type II
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Receptors, Transforming Growth Factor beta / genetics*
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Syndrome
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Uvula / abnormalities
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Vascular Malformations / diagnosis
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Vascular Malformations / genetics*
Substances
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Receptors, Transforming Growth Factor beta
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II