A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus

KONYA M. N., ELMAS M., Erginoglu S. E., Yesil M.

INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, vol.7, pp.130-133, 2015 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 7
  • Publication Date: 2015
  • Doi Number: 10.1016/j.ijscr.2014.10.098
  • Journal Name: INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.130-133
  • Keywords: Talipes equinovarus, Club foot, Ritscher-Schinzel syndrome, Genetical, Disorder, 3C, CEREBELLO-CARDIAC SYNDROME, MALFORMATIONS, CLUBFOOT
  • Dokuz Eylül University Affiliated: No

Abstract

INTRODUCTION: Club foot (CF) is characterized by multiple deformities such as varus, adductus and internal rotation of the forefoot. It is well-known and a frequent congenital disorder. CF can concurrently be seen with several diseases but it can rarely manifest as a component of any other syndrome. Ritscher-Schinzel syndrome, or cranio-cerebello-cardiac syndrome, is rarely seen and has autosomal recessive inheritance. It is characterized by cranio-facial, cerebellar and cardiac abnormalities. We report a case diagnosed as Ritscher-Schinzel syndrome concurrent with persistent CF.