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J Pediatr Genet 2012; 01(03): 195-197
DOI: 10.3233/PGE-2012-030
DOI: 10.3233/PGE-2012-030
A case of 9p deletion syndrome with Duane retraction syndrome
Subject Editor:
Further Information
Publication History
22 August 2011
11 November 2011
Publication Date:
27 July 2015 (online)
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.