DISTAL ARTHROGRYPOSIS TYPE IIB - FURTHER CLINICAL DELINEATION AND 54-YEAR FOLLOW-UP OF AN INDEX CASE

Distal arthrogryposis IIB is characterized by contractures of the dist al joints (especially of the fingers and toes) and, ptosis. We recentl y encountered a father and son with these manifestations. The father w as reported 54 years ago as a case of amyoplasia congenita (arthrogryp osis multiplex congenita). Both father and son have distal joint contr actures, most severe int the hands and feet, as well as ptosis and oph thalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are re lated to the type of distal arthrogryposis present in this family is n ot known. In spite of their physical limitations both father and son h ave maintained an active life-style. (C) 1995 Wiley-Liss, Inc.