Chromosomal Analysis in a Case of Orofacial-Digital Syndrome
- 12 April 1962
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 266 (15) , 774-775
- https://doi.org/10.1056/nejm196204122661509
Abstract
GORLIN, Anderson and Scott1 recently described 4 patients with hypertrophied frenula, oligophrenia, familial trembling and hand anomalies.1 The term orofacial-digital syndrome has been applied to this condition. In May, 1961, Ruess et al.2 described 12 similar patients, among whom a chromosomal abnormality had been identified in a mother and child. Subsequently, Gorlin3 elaborated on his cases, suggesting that a chromosomal abnormality was present in 1 of the No. 1 pair of chromosomes.Case ReportA 4-year-old girl who had been noted at birth to have several areas of alopecia, "cysts" on the gums and tongue, partial cleft palate, webbed fingers . . .Keywords
This publication has 2 references indexed in Scilit:
- Hypertrophied Frenuli, Oligophrenia, Familial Trembling and Anomalies of the HandNew England Journal of Medicine, 1961
- Chromosome preparations of leukocytes cultured from human peripheral bloodExperimental Cell Research, 1960