Key result
A 20-year-old man with the MYH8 p.R674Q mutation exhibited a broadened phenotype of trismus-pseudocamptodactyly syndrome, including facial asymmetry, ptosis, and multiple joint involvement.
Case Report (n=1)
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This case broadens the phenotypic spectrum of the MYH8 p.R674Q mutation in trismus-pseudocamptodactyly syndrome and supports the use of genetic testing for clinical diagnosis.
We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocamptodactyly. This patient had facial asymmetry, ptosis and downslanting palpebral fissures and multiple joint involvement, with bilateral hip dysplasia, reduced elbow supination, vertical tali and talipes in addition to the classical findings of trismus and pseudocamptodactyly. These findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.
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Minzer-Conzetti et al. (2008) conducted a case report in trismus-pseudocamptodactyly (TPS) syndrome (n=1). MYH8 p.R674Q mutation was evaluated. A 20-year-old man with the MYH8 p.R674Q mutation exhibited a broadened phenotype of trismus-pseudocamptodactyly syndrome, including facial asymmetry, ptosis, and multiple joint involvement.
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