A case with bilateral radio-ulnar synostosis

Koc A., Kaymak A. O., Karaer K., Ergun M. A., AKSU T., PERÇİN F. E.

GENETIC COUNSELING, vol.19, no.2, pp.193-198, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 2
  • Publication Date: 2008
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.193-198
  • Keywords: congenital radio-ulnar synostosis, hypotonia, forearm anomaly, speech delay, mental retardation, THROMBOCYTOPENIA, RETARDATION, DOMINANT
  • Dokuz Eylül University Affiliated: No


Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, cafe an lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case.