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

@article{Tysz2002PatientWT,
  title={Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.},
  author={Beyhan T{\"u}ys{\"u}z and Cenap Zeybek and Gazi Zorer and Ozlem Sipahi and Savaş Ung{\"u}r},
  journal={American journal of medical genetics},
  year={2002},
  volume={109 3},
  pages={206-10}
}
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.