Schwartz-Jampel syndrome: Three pediatric case reports

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

GENETIC COUNSELING, cilt.14, ss.353-358, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 14 Konu: 3
  • Basım Tarihi: 2003
  • Sayfa Sayıları: ss.353-358


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.