Schwartz-Jampel syndrome: Three pediatric case reports

YAPICIOGLU B., Satar M., YILDIZDAS D., NARLI N., Süleymanova D., Tutak E.

GENETIC COUNSELING, vol.14, no.3, pp.353-358, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 3
  • Publication Date: 2003
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.353-358
  • Çukurova University Affiliated: Yes

Abstract

Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation.