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., ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.158A, no.6, pp.1400-1405, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 158A Issue: 6
  • Publication Date: 2012
  • Doi Number: 10.1002/ajmg.a.35306
  • Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1400-1405
  • Keywords: Sedaghatian type spondylometaphyseal dysplasia, simplified gyral pattern, cerebellar hypoplasia, congenital atrioventricular block, newborn, LETHAL METAPHYSEAL CHONDRODYSPLASIA, CORTICAL DEVELOPMENT, CLASSIFICATION, ARRHYTHMIA
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

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.