Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome

Objectives: To examine the prevalence and nature of craniofacial abnormalit ies in patients with Marfan's syndrome and to investigate the relationship between craniofacial abnormalities and obstructive sleep apnea (OSA) severi ty in these patients. Design: Cross-sectional. Setting: Marfan's syndrome clinic in a tertiary teaching hospital. Patients: Fifteen consecutive adult patients (7 men and 8 women; mean [+/- SD] age, 34.8 +/- 13.2 years) who had Marfan's syndrome. Measurements and results: Apneic status was determined from standard overni ght polysomnography testing. Measurements from standardized lateral cephalo metric radiographs were compared to normative data. Thirteen patients had O SA, which was defined as an apnea/hypopnea index (AHI) of >5 episodes per h our (mean AHI, 22 +/- 15 episodes per hour). A high prevalence of craniofac ial abnormalities was found with significant gender differences for some of the variables. Significant abnormalities for the entire group were bimaxil lary retrusion, a reduced maxillary length, an increased total anterior fac e height, a long lower anterior face height, an obtuse gonial angle, a stee p mandibular plane, a reduced posterior nasal airway height, a reduced post erior airway space, and an increased distance from the mandibular plane to the hyoid bone. Univariate analysis revealed significant correlations among the total anterior face height, the upper anterior and posterior face heig hts, the mandibular length, and AHI. There was a significant correlation be tween the rank of the number of cephalometric abnormalities per patient and AHI in those patients with OSA. Conclusions: Craniofacial abnormalities are common in patients with Marfan' s syndrome. The relationship between some cephalometric parameters and apne a severity suggests a potential role of craniofacial structure in the patho genesis of OSA in these patients.