Download PDF
J Pediatr Genet 2012; 01(03): 195-197
DOI: 10.3233/PGE-2012-030
Georg Thieme Verlag KG Stuttgart – New York

A case of 9p deletion syndrome with Duane retraction syndrome

Authors

  • Rahul Sinha

    a   Department of Pediatrics, 167 Military Hospital, Pathankot, Punjab, India

  • Shamsher Dalal

    a   Department of Pediatrics, 167 Military Hospital, Pathankot, Punjab, India

  • Uma Raju

    a   Department of Pediatrics, 167 Military Hospital, Pathankot, Punjab, India

  • Biju M. John

    a   Department of Pediatrics, 167 Military Hospital, Pathankot, Punjab, India

  • Vandana Negi

    a   Department of Pediatrics, 167 Military Hospital, Pathankot, Punjab, India

Subject Editor:
Further Information

Publication History

22 August 2011

11 November 2011

Publication Date:
27 July 2015 (online)

Also available at
 PDF Download Permissions and Reprints

Abstract

The chromosome 9p deletion syndrome is a rare but specific clinical event. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, and a long philtrum) and psychomotor retardation. Here we report a child with chromosome 9p deletion with Duane retraction syndrome, which has never been reported in the literature before.

Keywords

9p deletion - dysmorphism - chromosome - Duane retraction syndrome