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Show Medical Service Aids Physicians In Diagnosing Rare Birth Defects ; ;v.' '" , h r' 'aV -I DR. MURRAY FEINGOLD, co-director of the Syndrome Identification ond Consultation Service at Boston Floating Hospital for Infants and Children, studies material pertaining to a rare birth defect. The Service receives requests from physicians here and abroad for assistance in diagnosing unusual cases. "Every week physicians around the country write to us for help in diagnosing rare and unfamiliar birth defects," says Dr. Murray Feingold, co-director of the Syndrome Identification and Consultation Service nt Boston Floating Hospital for Infants and Children. This unique service was established es-tablished last January to facilitate such requests. Dr. Feingold and Dr. Sydney Syd-ney S. Gellis, co-directors of the Service, are distinguished pediatricians and editors of a monthly feature on pediatric abnormalities which appears in the "American Journal of Diseases of Children." Dr. Feingold, assistant professor pro-fessor of pedriatrics, Tuf's University, also is chief of ambulatory am-bulatory services and director of the March of Dimes Birth Defects Center at the Hospital. Dr. Gellis, professor and chairman chair-man of the pediatrics department depart-ment at Tufts, is hospital pediatrician-in-chief Both were concerned with the urgent need for a central source of information about unusual congenital malformations malforma-tions and genetic abnormalities. abnormali-ties. To meet this demand, the Massachusetts Bay Chapter of the March of Dimes provided a grant for photographs and medical histories of such patients pa-tients to be circulated throughout through-out several medical centers for comment and opinion. First of Its Kind . The Syndrome Identification and Consultation Service, first of its kind, is .available to physicians without charge. During its first year of operation, opera-tion, requests have been handled han-dled from all parts of the United States and abroad. Doctors seeking advice submit sub-mit their patient's case history, his-tory, significant information about pregnancy, delivery and family background, and physical physi-cal and laboratory findings. Black and white photographs of physical characteristics are included along with any appropriate ap-propriate X-ray films. Color slides were sought at first, but they proved less satisfactory satisfac-tory than black and white pictures. pic-tures. The material is duplicated and mailed to five other consultants con-sultants in medicine, pediatrics, pediat-rics, genetics and dentistry. Their evaluation, together with original reports and photographs, photo-graphs, is returned to the referring re-ferring physician as quickly as possible. The opinions may suggest additional testing or treatment and genetic advice to parents. When the consultants consul-tants know of a specialist concerned con-cerned with the particular condition, the referring physician physi-cian is informed. Consultants in the Syndrome Information Service are: Dr. Dick Hoefnagel, assistant professor pro-fessor of pediatrics, Dartmouth Medical School; Dr. Victor A. McKusick, professor of medicine med-icine and chief, division of medical genetics. The Johns Hopkins University; and Dr. John M. Opitz, assistant professor pro-fessor of pediatrics and medical med-ical genetics, University of Wisconsin. All are associated with National Foundation-March Foundation-March of Dimes Birth Defects Center programs. Also on the panel are Dr. Robert J. Gorlin, division of oral pathology, University of Minnesota School of Dentistry, and Dr. David W. Smith, professor pro-fessor of pediatrics, University of Washington, Seattle. According to Dr. Gellis, the results of this expanding study have far-reaching value. Specialists Help MDs "Some syndromes are SO rare that- many physicians may not have encountered the condition previously," he notes. "The Identification Service makes available the experience of a group of specialists who have an extensive interest in these disorders. For the first time we have the opportunity to gather and disseminate this kind of information." Dr. Feingold believes that the Service has great potential. poten-tial. It will probably require computerization to enable retrieval re-trieval and diagnosis of rare disorders of genetic origin. It should serve to assist in the elucidation of new syndromes. |