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

ÖZKAYA A. K., OKTEN A. N.

GENETIC COUNSELING, cilt.23, sa.3, ss.423-429, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 3
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.423-429
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.