Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

OSAS in craniofacial syndromes: an unsolved problem.

Although the incidence of Obstructive Sleep Apnea syndrome (OSAS) in craniofacial syndromes is high, it is often not recognized and thus not treated. In order to study the diagnostics and treatment options for these patients, we studied a group of 72 patients treated in our hospital for Apert, Crouzon, or Pfeiffer syndrome, and compared our findings with the literature. There appears to be agreement on polysomnography (PSG) and airway endoscopy as the main diagnostic options, but therapies are very diverse. Early diagnostics and prompt therapy will prevent serious complications.