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  • Title: Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
    Author: Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S.
    Journal: Am J Med Genet; 2002 May 01; 109(3):206-10. PubMed ID: 11977180.
    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.
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