Article
Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.
The Annals of otology, rhinology, and laryngology - 1 Oct 2011
Nelson Marc E, Griffin Garrett R, Innis Jeffrey W, Green Glenn E
Abstract excerpt
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...
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