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

Tuysuz B., Zeybek C., Zorer G., Sipahi O., Ungur S.

AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.109, sa.3, ss.206-210, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 109 Sayı: 3
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1002/ajmg.10283
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.206-210
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.