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Research
Larsen Syndrome Registry and Web Site
Larsen syndrome is a rare disorder with an incidence of about one in 100,000
in which the primary characteristics include marked joint hypermobility, congenital
dislocations, and distinctive facial features. It can be inherited in an autosomal
dominant or recessive fashion, or it may be a sporadic occurrence in a family.
Under a NORD Research Grant, a team from Cedars-Sinai Medical Center is conducting
a study that includes establishment of a Larsen syndrome registry and Web site.
The general aim of the study is to provide systematic comparison of the clinical
characteristics, radiographic manifestations, and neuroimaging findings of individuals
with Larsen syndrome to differentiate the dominant and recessive phenotypes,
establish objective diagnostic criteria, and formulate health maintenance recommendations.
The registry will permit sample collection for long-term follow-up from affected
individuals and members of their families. The Web site will provide information
for affected individuals and families, and healthcare professionals.
For information, contact any of the following individuals by phone or e-mail,
or write to them at the Medical Genetics Birth Defects Center, Cedars-Sinai
Medial Center, Los Angeles, CA 90048:
John M. Graham, MD, ScD
Tel: (310) 423-9914
Jeannie Kreutzman, CPNP
Tel: (310) 423-9906
jeannie.kreutzman@cshs.org
Dawn Earl, CPNP
Tel: (423-9903
dawn.earl@cshs.org
Information about the project is also available online at: www.cedars-sinai.edu/6015.html
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