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March 1970

Oral-Facial-Digital Syndrome: A Case With Necropsy Findings

Author Affiliations

Vancouver, British Columbia, Canada
From the Woodlands School, Residential School for the Retarded, Mental Health Services, New Westminster, British Columbia, Canada (Drs. Co-Te and Tischler); and the Department of Pathology (Dr. Dolman) and Division of Medical Genetics, Department of Pediatrics (Dr. Lowry), University of British Columbia; and the Vancouver General Hospital, Vancouver, British Columbia, Canada.

Am J Dis Child. 1970;119(3):280-283. doi:10.1001/archpedi.1970.02100050282022

The oral-facial-digital (OFD) syndrome was first described by Papillon-Leage and Psaume in 1954.1,2 Since then, about 80 cases have appeared in the literature, but so far very few necropsies have been reported and only one with abnormalities of the brain.3 The purpose of this paper is to report a case of OFD syndrome and describe the findings at necropsy.

Report of a Case  The patient, a female, was the second born of healthy unrelated parents who were in their early 20's at the time of her birth. Two siblings are reported to be healthy. The only pertinent family history was that of the maternal grandmother who had a history of eight miscarriages of a total of 13 pregnancies, but further details of these were not known.The mother was exposed to German measles in the second month of pregnancy but did not develop symptoms. She received γ-globulin. The

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