A case of 9p deletion syndrome with Duane retraction syndrome

Article type: Research Article

Authors: Sinha, Rahul^; | Dalal, Shamsher | Raju, Uma | John, Biju M. | Negi, Vandana

Affiliations: Department of Pediatrics, 167 Military Hospital, Pathankot, Punjab, India

Note: [] Corresponding author: Dr Rahul Sinha, DNB Pediatrics_167 Military Hospital Pathankot, Punjab, India. Tel.: +91 07837090043; Fax: +91 01862251698; E-mail: [email protected].

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

DOI: 10.3233/PGE-2012-030

Journal: Journal of Pediatric Genetics, vol. 1, no. 3, pp. 195-197, 2012