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  Call for Patients: Trismus pseudocamptodactyly syndrome

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Author Topic:   Call for Patients: Trismus pseudocamptodactyly syndrome
posted 07-28-2004 06:05 PM     Click Here to See the Profile for dam2001   Click Here to Email dam2001     Edit/Delete Message Reply w/Quote
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.

Craig T. Basson, MD, PhD
Professor of Medicine
Director, Cardiovascular Research
Greenberg Division of Cardiology
Weill Medical College of Cornell University
525 E. 68th Street, Room A412
New York, NY 10021
Phone: 212-746-2201
Laboratory: 212-746-2208
Fax: 212-746-2222
Email: ctbasson@med.cornell.edu

Deborah A. McDermott, MS, CGC
Genetic Counselor
Molecular Cardiology Laboratory
Weill Medical College of Cornell University
Phone: 212-746-2054
Email: dam2001@med.cornell.edu


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