Deletion of short arm of chromosome 18, Del(18p) syndrome

Abstract

Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. This case report presents with characteristic features along with rare feature of single nostril.

Keywords

• Deletion 18p syndrome
• monosomy 18p
• short neck
• single nostril
• ocular hypertelorism