Oral-facial-digital syndrome.

Papillon-Leage and Psaume in 1954 reported a 'hereditary malformation of the buccal mucous membrane, and abnormal frena' (Papillon-Leage and Psaume, 1954a).Other French and German authors have since published full accounts of this condition, and Gorlin and Pindborg (1964) have summarized current knowledge of the syndrome in a recent textbook.They described it under the heading of orodigitofacial dystosis, but as there is involvement of other tissues than bone the term oral-facial-digital (OFD) syndrome is to be preferred (Doege, Thuline, Priest, Norby, and Bryant, 1964).Apart from an isolated case report by Nesbitt (1965), British authors appear to have been curiously unaware of the syndrome, though Smithells (1964) drew attention to it in a British journal without adding any further examples.This paucity of references is surprising, as the first account of the syndrome was probably given by Murray in 1860.He described a Scottish female infant with character- istic features in a footnote to an account of a some- what similar familial disorder.The family des- cribed by Doege et al. (1964) in the United States was also of Scottish descent.It may be that the condition is more common in Britain than was believed hitherto; Gorlin and Psaume (1962) suggested an incidence in France of 12 cases in 1000 individuals with cleft palate.Wahrman, Berant, Jacobs, Aviad, and Ben-Hur (1966) calculated that among Caucasian peoples the expected incidence might be about 0 0225 per 1000 live births.On this basis about 22 affected infants would be born each year in the United Kingdom.We report five patients with the OFD syndrome, and comment on the clinical and genetic features of this condition.Case Reports Case 1.This girl was born at term after a normal pregnancy and weighed 3 * 4 kg.Her mother was 34 and