Studies of a Family with the Oral-Facial-Digital Syndrome
- 19 November 1964
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 271 (21), 1073-1080
- https://doi.org/10.1056/nejm196411192712101
Abstract
IN 1954 a syndrome characterized by cleft tongue and jaw, cleft lip and palate and digital malformation was described in 8 female patients by Papillon-Léage and Psaume.1 The terms "oral-facial-digital syndrome"2 and "orodigitofacial dysostosis"3 were later proposed for this condition.During a visit to a general pediatric clinic at Children's Orthopedic Hospital 3 members in different generations of a family were noted to have cleft tongue, cleft or pseudocleft palate and tongue tumors. Investigation of this family has disclosed the oral-facial-digital syndrome** in 15 females in 4 generations and 89 births. Studies are consistent with the hypothesis that this condition . . .Keywords
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