The multiple synostoses syndrome. A plea for simplicity.

Case reports are presented of a father and daughter suffering from what has formerly been called the Nievergelt-Pearlmansyndrome, and now termed "multiple synostoses syndrome." Features of the condition include: proximal symphalangism; tarsal and carpal coalitions; short first metacarpals and metatarsals; elbow fusions or dysplasias; conductive nerve deafness. This syndrome appears to be inherited as an autosomal dominant trait of variable penetrance, and probably caused by a single gene abnormality.