Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation
| Autor: | Erica Wu, Anne Slavotinek, Karin Vargervik, Karen Minzer-Conzetti |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Trismus Carney Complex Variant Pathology and Forensic Medicine Fingers Elbow Humans Medicine Abnormalities Multiple Genetics (clinical) Genetics Hip Myosin Heavy Chains business.industry Facies Infant Trismus pseudocamptodactyly syndrome Syndrome General Medicine Phenotype Variation (linguistics) Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Anatomy medicine.symptom business Facial symmetry |
| Zdroj: | Clinical Dysmorphology. 17:1-4 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0b013e3282efdad8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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