Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature

Aygun C., Celik F. C., Nural M. S., Azak E., Kucukoduk S., Ogur G., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.158A, sa.6, ss.1400-1405, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 158A Sayı: 6
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1002/ajmg.a.35306
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1400-1405
  • Anahtar Kelimeler: Sedaghatian type spondylometaphyseal dysplasia, simplified gyral pattern, cerebellar hypoplasia, congenital atrioventricular block, newborn, LETHAL METAPHYSEAL CHONDRODYSPLASIA, CORTICAL DEVELOPMENT, CLASSIFICATION, ARRHYTHMIA
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar hypoplasia. We want to emphasize that in this rare congenital lethal skeletal dysplasia with unknown etiology, central nervous system malformations might be a major component of the disorder and should be evaluated in detail to possibly uncover the underlying pathophysiology. (c) 2012 Wiley Periodicals, Inc.