CATARACTS, MOTOR SYSTEM DISORDER, SHORT STATURE, LEARNING-DIFFICULTIES, AND SKELETAL ABNORMALITIES - A NEW SYNDROME

We present a 4-generation family in which affected individuals have ca taracts, a motor neuronopathy with upper motor neuron signs, short sta ture, developmental delay, and skeletal abnormalities, An additional s ymptom is weakness during pregnancy which resolves after delivery, The condition is inherited in an autosomal dominant manner, The manifesta tions and inheritance are not found in any previously described condit ions, We consider that this is a new syndrome. (C) 1996 Wiley-Liss, In c.