SHORT STATURE, RENAL AND THUMB AGENESIS ASSOCIATED WITH SITUS INVERSUS TOTALIS: A CASE REPORT


ÖZKAYA A. K., OKTEN A. N.

GENETIC COUNSELING, vol.23, no.3, pp.423-429, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2012
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.423-429
  • Karadeniz Technical University Affiliated: Yes

Abstract

Short stature, renal and thumb agenesis associated with silos inversus totalis: a case report: Situs inversus is a laterality disorder of the internal organs, which create a mirror image of the normal morphology, and arc associated with cardiovascular, abdominal, and pulmonary malformations. We report a case with constitutional growth delay, thumb and renal agenesis, dysmorphic facial features, carpal tunnel syndrome and situs inversus totalis.