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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0033377 (
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)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. 1804 72
