Pulmonary dysfunction secondary to mandibular retrognathia in Marfan's syndrome.

Referrals to pulmonary physicians for polysomnography to evaluate snoring or the possibility of sleep apnea syndrome often evolve into a multidisciplinary clinical problem. We present a young woman with two congenital abnormalities (Marfan's syndrome and retrognathism) which both may affect her decreased exercise tolerance, daytime hypersomnolence, and fatigue. Polysomnography and pulmonary exercise testing documented improvement in her upper airway diameter and exercise capacity. Her improved sleep pattern and her understanding of her exercise performance limitations afforded her a new outlook on life.