EXTENDING THE SPECTRUM OF DISTAL ARTHROGRYPOSIS

We describe a mother and son with multiple, non-progressive, congenita l contractures, camptodactyly and absent flexion creases, expressionle ss face, blepharophimosis, microstomia, and short stature. Although th ese cases share similarities with the autosomal-recessive Schwartz-Jam pel and Marden-Walker syndromes, they have a different mode of inherit ance and lack myotonia, one of the most characteristic findings of the Schwartz-Jampel syndrome. Our cases most closely resemble those previ ously reported as distal arthrogryposis type IIIb, although in our pat ients the proximal joints are severely affected and extraocular involv ement is absent. Hearing loss is present in one and cleft palate in th e other of our patients; these findings were previously described in a rthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, sin ce there appears to be significant overlap between the different syndr omes. (C) 1996 Wiley-Liss, Inc.