Diagnostic approaches to respiratory abnormalities in craniofacial syndromes

Craniofacial syndromes are a complex cluster of genetic conditions characterized by embryonic perturbations in the developmental trajectory of the upper airway and related structures. The presence of reduced airway size and maladaptive neuromuscular responses, particularly during sleep, leads to significant alterations in sleep architecture and overall detrimental gas exchange abnormalities that can be life-threatening. The common need for...