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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

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
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Publication History

22 August 2011

11 November 2011

Publication Date:
27 July 2015 (online)

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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