Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

In 1954 Papillon-Leage and Psaume (I954a, b) described 8 patients with a syndrome characterized by congenital anomalies of the face, oral cavity, and digits. Since then, several groups of patients have been reported (Gorlin, Anderson, and Scott, I96I; Ruess, Pruzansky, Lis, and Patau, I962; Gorlin and Psaume, I962; Kaplan, Vaharu, Voorhess, and Gardner, I962; Kushnick, Massa, and Baukema, I963; Doege, Thuline, Priest, Norby, and Bryant, I964) with this disorder, and the name 'oral-facial-digital syndrome' (OFD) has been suggested (Ruess et al., I962). Chromosome studies have been carried out on a number of patients with OFD. Patau, Therman, Inhorn, Smith, and Ruess (I96I) described a mother and child who presumably had a 'partial trisomy' resulting from an insertion into a No. i chromosome (Denver classification). Gorlin (I96I) also reported one of his six patients to have an abnormal No. i, though no karyotype was published. However, the majority of patients studied have had normal karyotypes (Ruess et al., I962; Gorlin and Psaume, I962; Kaplan et al., I962; Doege et al., I964). Kushnick et al. (I963) described another chromosomal aberration in association with OFD. Their patient had 47 chromosomes, the extra chromosome matching best with group A, and the authors believed this probably was a trisomy for the No. i chromosomes. To our knowledge, this patient is the only male reported with OFD. In a recent artide Doege et al. (I964) described a family of 89 persons in which I5 females from 4 generations had OFD. The pedigree was compatible with a dominant mode of inheritance, and the malefemale ratio (12:2I) was noted to fit with the expected ratio (I :2), if this syndrome is lethal to males. In this series of patients, necropsies were done on 3 affected members. One of these had