Chromosome 4q Deletion Syndrome: Craniofacial Characteristics Associated with Monosomy of the Long Arm of Chromosome 4q

Abstract

Chromosome 4q deletion syndrome is a monosomy that comprises all interstitial and terminal deletions of the long arm of chromosome 4. It results in a variety of phenotypes characterized by various craniofacial and bodily abnormalities. The purpose of this study is to report a case of 4q deletion syndrome and describe its clinical manifestations, with particular attention to the craniofacial presentation and subsequent management of the syndrome, as well as its associated micrognathia and airway complications. Among treatment options, the investigators chose bilateral distraction osteogenesis of the mandible in order to increase the subject's posterior airway space. At follow-up, the subject was able to ventilate without any adjuncts or mechanical ventilation assistance.