Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.

Abstract

Campomelic dysplasia is a rare and historically lethal skeletal dysplasia with a variable but recognizable phenotype; it affects the long bones and is associated with a variety of head and neck anomalies. Mutations in or around the SOX9 gene have been identified as the molecular origin in most patients. We briefly present 2 children who meet the diagnostic criteria for campomelic dysplasia to illustrate the various clinical manifestations. Many patients with campomelic dysplasia have airway obstruction at multiple levels. We describe our approach to managing the airway in these patients, and review recent advances in understanding how SOX9 mutations lead to the spectrum of abnormalities seen in the head and neck.

• Authors: Marc E Nelson, Garrett R Griffin, Jeffrey W Innis, Glenn E Green
• Journal: The Annals of otology, rhinology, and laryngology (Ann Otol Rhinol Laryngol) Vol. 120 Issue 10 Pg. 682-5 (Oct 2011) ISSN: 0003-4894 [Print] United States
• PMID: 22097155 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• SOX9 Transcription Factor
• SOX9 protein, human

Topics

• Campomelic Dysplasia (genetics, therapy)
• Female
• Humans
• Infant, Newborn
• Mutation
• Respiratory Therapy
• SOX9 Transcription Factor (genetics)