Indexed on: 01 Mar '74Published on: 01 Mar '74Published in: Human Genetics
This report describes a combination of symphalangism and anomaly of the middle ear in a family. The same genetic defect is thought to be responsible for both the deformation of the skeleton and the anomaly of the middle ear. The authors are not sure whether there is any connection between the congenital strabismus and the two other anomalies of brother and sister. The assumption of a genetic connection between spina bifida, which was described for the first time with symphalangism, and the anomalies of the fingers and toes is rejected.