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James B. Edwards College of Dental Medicine

Craniofacial Genetics Research

Gene Mapping of Isolated Catch 22 Syndrome Defects
Funds: Intramural support #2665000-66084 balance $6,259.00 12-11-97
Several paper presentations to regional and national meetings.

Delineation and Orodental Characterization of Birth Defects Affecting Craniofacial Structures
Results: Numerous papers presented at national meetings. There are included studies in collaboration with national and foreign institutions.

Clinical and Gene Mapping Study of a Large SC Family with Multiple Synostosis Syndrome
Status: We plan to evaluate/follow up 15-20 affected individuals with Multiple Synostosis Syndrome and their relatives for an estimated total of 50 individuals from five generations. This family resides in different towns in South Carolina within 200 miles from Charleston. This family is uniquely suited for the proposed genetic analysis because the family is relatively large, they show numerous clinically affected individuals of both sexes and the mode of inheritance is compatible with an autosomal dominant trait. Preliminary studies have been reported by Dr. Salinas.
Planning: A collaborative study with Dr. C. Francomano, Chief Medical Branch, NIH National Genome Research Institute to map the gene for the disorder.

International Consortium for the Study of Cleft Lip and Palate Gene(s)
Status: Planning stage with the support of NIDR. Consensus conference on minimum data base. On progress Second phase will be to implement collaborative data collection and DNA sampling The Division of Craniofacial Genetics could be, with necessary basic infrastructure, a hub for several Latinoamerican and European Centers. Contacts have already been made.

National Consortium to Study Environmental Influences in the Causation of Hemifacial Microsomia. Boston University
Status: We are collaborators of this national consortium. The grant has the support of the NIH. Our basic role is the ascertainment of new cases with hemifacial microsomia. Then the mother of the child will be interviewed and pertinent data will be collected at that time.

Dental Morbidity in Special Patients
This research study is part of the "Dental Program for the Diagnosis and Treatment of the Special Patient."
Funds: MUSC-HSCH, 1998-2000
The basic goal is to establish a base line on the orodental morbidity affecting the special patient.