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September 24, 2013
Darryl Geddes 315 464-4828

Experts gather at Upstate Medical University for colloquium on limb deformities


SYRACUSE, N.Y. — Thirteen experts in congenital arterial and skeletal birth defects will gather on the Upstate Medical University campus Sept. 28 and 29 for a special colloquium to help broaden the understanding of these defects that cause club foot and other limb deformities and set a new direction for more definitive research in the area.

Colloquium organizer David Hootnick, MD, an orthopedic surgeon and an Upstate faculty member, said the focus of the colloquium is to discuss the latest research in this area and help build consensus around the causes of such defects.

“Birth defects have always haunted the imagination of mankind but have been little understood, Hootnick said. “Despite progress in so many other broad areas of research, including the Genome project, scientific explanations for reproductive anomalies have usually been more speculative than substantive.  A certain ingenious empiricism has informed the efforts of researchers to create idealized models of congenital human limb maldevelopment. The history of efforts to rationalize the anatomy and mechanisms of maldevelopment have been characterized by much abstract theorizing but little fundamental scientific evidence.

Hootnick continued: “Lacking an understanding of the ultimate mechanisms which have produced the congenital limb deformities, researchers have concentrated their efforts on the visible structural deformities evident,” he said. “They have applied names such as clubfoot, congenital vertical talus, congenital short femur and/or tibia and fibula and phocomelia to the limb deformities. Those descriptive terms have served to sunder rather than unify investigation into the origins of those various deformities, which may occur singly or in combination.”

Nearly 40 years ago, Hootnick and faculty colleagues at Upstate David S. Packard, PhD, and E. Mark Levinsohn, MD led a collaborative effort in an attempt to understand the fundamental bases of such birth defects. The effort was based on original work completed at The Great Ormond Street Hospital in London, an internationally acclaimed children’s hospital. Their continued investigation into the asymmetric pattern of congenital skeletal defects of the human congenital short limb has lead to an understanding that faulty transition of the human embryonic arterial pattern is fundamentally associated temporally and anatomically with specific skeleton defects.

Aided by corresponding researchers in Kyoto, San Paolo, St. Louis and Boston, the SUNY Upstate team has revealed that a majority of human limbs with bony malformations also present specific consistently abnormal arterial patterns. The anatomy of the arterial anomalies stands out from all the other soft tissue anomalies. They have hypothesized that an etiologically significant relationship exists between the development of the arterial and bony anomalies.

The experts have concluded that the widely accepted systems of classifying human congenital bony deficiencies present an obstacle to understanding the causes of these birth defects. Their research suggests that an imbalance in the blood supply of clubfeet can account for recurrence of that deformity after apparently successful treatment. Further, commonly accepted treatments of surgical lengthening of the congenital short limb must be reconsidered in view of the consistent congenital arterial reductions found in such limbs.

Among those participating in the colloquium is Trent Stephens, co-author of “Dark Remedy: The Impact of Thalidomide and Its Revival as a Vital Medicine.”

The colloquium runs from 8 a.m. to 5 p.m. Saturday and 8:30 a.m. to 12:15 p.m. Sunday. Upstate faculty interested in attending the colloquium should contact Karen Fontanella at 315-464-8536.

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