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Akron Children’s hosts national experts in skeletal dysplasia

UPublish story by Holly Pupino

Leading experts in skeletal dysplasia gathered in Akron recently to discuss research opportunities and future directions in patient treatment.

AKRON, Ohio A group of the country’s leading experts in skeletal dysplasia recently gathered in Akron for a “think tank” session to discuss research and future projects. The meeting was sponsored by Akron Children’s Hospital.

Skeletal dysplasia, usually associated with dwarfism, includes more than 400 distinct types of genetic conditions affecting an estimated 30,000 people in the United States. In addition to short stature, patients with skeletal dysplasia have complex health care needs, such as spinal deformities and disorders, cardiac defects, ear, nose and throat dysfunction, and limb abnormalilties.

“The meeting was very productive and the major outcome was deciding to pull together the efforts of five clinical centers of excellence to create the American Bone Dysplasia Collaborative,” said Dennis Weiner, M.D., director of the Regional Skeletal Dysplasia Center at Akron Children’s Hospital and long-time chairman of the Department of Orthopedics.

The five centers are Cedar-Sinai Medical Center in Los Angeles, the University of Wisconsin School of Medicine and Public Health in Madison, Wis., the Nemours/Alfred I. DuPont Hospital for Children in Wilmington, Del., Johns Hopkins Health Center in Baltimore, Md., and Akron Children’s Hospital.

“We will form a data base to share information and resources,” said Dr. Weiner. “Our first project will likely focus on the best surgical treatments for bowlegs in patients with achondroplasia, which is, by far, the most common type of skeletal dysplasia.”

In addition to Dr. Weiner, the following physicians attended the meeting in person or through tele-conference:

· Richard Pauli, M.D., Ph.D., professor emeritus at the University of Wisconsin School of Medicine and moderator of the conference. Co-director of Akron Children’s Regional Skeletal Dysplasia Center.

· William Mackenzie, M.D., chairman of the Department of Orthopedics at Nemours/Alfred I. DuPont Hospital and chairman of the Medical Advisory Board of Little People of America (LPA).

· Deborah Krakow, M.D., director of the Skeletal Dysplasia Clinic at the David Geffen School of Medicine at UCLA and an expert in the prenatal diagnosis of skeletal dysplasia.

· Julie Hoover-Fong, M.D., Ph.D., director of medical genetics at Johns Hopkins University and a leading geneticist for skeletal dysplasia.

· Michael Bober, M.D., Ph.D., a medical geneticist at the Nemours/Alfred I. DuPont Institute and a member of the LPA Medical Advisory Board.

· Haynes Robinson, M.D., a medical geneticist and co-director, D. Gary Benfield Fetal Treatment Center.

Also available on tele-conference:

· Jeff Campbell, M.D., neurosurgeon at the Nemours/Alfred I. DuPont Institute.

· Rich Kerbavez, M.D., an ENT specialist at the East Bay Head and Neck Surgery Center in Berkeley, Calif.

· Dan Hoernschemeyer, M.D., a pediatric orthopedic surgeon at the Missouri Orthopedic Institute.


About Akron Children’s Hospital

Ranked a Best Children’s Hospital by US News & World Report, Akron Children’s is the largest pediatric provider in northeast Ohio. With two pediatric hospitals, as well as 20 primary care and nearly 70 pediatric specialty locations, our dedicated staff handles more than 650,000 patient visits a year. We also serve as a major teaching affiliate of Northeast Ohio Medical University, and offer a number of pediatric subspecialty fellowship programs. In addition to our commitment to providing quality, family-centered care, we also strive to find ways to advance the prevention and treatment of childhood illness and injury through research. For more information, visit


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