Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts

Abstract

We describe a 33-day-old boy who had short and thick tibiae, symmetrical oligosyndactyly of the hands, and distinctive face. The patient was considered as a case of Nievergelt syndrome, a rare form of mesomelic dysplasia. Besides the characteristic mesomelic limb anomalies of Nievergelt syndrome, this patient exhibited two additional features: agenesis of the cerebellar vermis and cataracts, both of which have not been previously reported. (C) 2002 Wiley-Liss, Inc.