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 Call for Patients: Trismus pseudocamptodactyly syndrome
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| Author | Topic: Call for Patients: Trismus pseudocamptodactyly syndrome |
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dam2001 Member |
posted 07-28-2004 06:05 PM
   
Trismus Pseudocamptodactyly Syndrome (also referred to as Hecht-Beals Syndrome or Dutch-Kentucky syndrome; OMIM#: 158300) is an autosomal dominant distal arthrogryposis typified by an inability to open the mouth fully (trismus) and pseudocamptodactyly characterized by involuntary contracture of the distal and proximal interphalangeal joints during wrist dorsiflexion but not volarflexion. We have recently identified mutations in the perinatal myosin heavy-chain gene (MYH8) in a family with features of TPC and Carney complex (cardiac and/or cutaneous myxomas, multiple lentigines, endocrinopathies, etc.: OMIM#: 160980) [Veugelers et al., NEJM 2004; 351:460-469]. We are interested in recruiting additional individuals and families with a clinical diagnosis of TPC for genotype-phenotype studies, and further investigation into the role of MYH8 in muscle development and cardiac tumorigenesis. Please contact Dr. Craig Basson or Deborah McDermott if you are interested in referring such individuals. We have an IRB approved protocol for this project.
Deborah A. McDermott, MS, CGC IP: 140.251.145.53 |
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