抄録
Symphalangism is a rare malformation of the hands or feet and is characterized by the absence of the proximal interphalangeal joints of the finger and fusion of the talus and navicular bones of the foot.
This condition is inherited as an autosomal dominant and is often associated with conductive deafness which is caused by the bony fusion of the stapes to the oval window.
The Symphalangism associated with strabismus and impairment of hearing is also described but the simultaneous occurrence of these three anomalies is quite rare, and only two cases, of these malformations in a mother and her daughter, were reported by E.S. Vesell.
The authors found three cases of symphalangism associated with strabismus and hearing loss in grandmother, father and son, and the possibility of a single gene producing the three malformations was discussed. The authors feel that it is difficult to conclude that the associated anomalies such as conductive deafness and strabismus are expressions of the symphalangism gene.
