Background: The mucopolysaccharidoses are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. The objective of this study was to determine the incidence of craniosynostosis in the different mucopolysaccharidosis (MPS) types and its clinical consequences.
Methods: In a prospective cohort study spanning 10 years, skull imaging and clinical evaluations were performed in 47 MPS patients (type I, II, VI, and VII).
Background: Children with syndromic craniosynostosis often have obstructive sleep apnea and intracranial hypertension. The authors aimed to evaluate (1) sleep architecture, and determine whether this is influenced by the presence of obstructive sleep apnea and/or intracranial hypertension; and (2) the effect of treatment on sleep architecture.
Methods: This study included patients with syndromic craniosynostosis treated at a national referral center, undergoing screening for obstructive sleep apnea and intracranial hypertension.
Objective: To describe the course of obstructive sleep apnoea syndrome (OSAS) in children with syndromic craniosynostosis.
Design: Prospective cohort study.
Setting: Dutch Craniofacial Centre from January 2007 to January 2012.
Objectives/hypothesis: This study evaluated the accuracy of established obstructive sleep apnea syndrome (OSAS) questionnaires based on presenting symptoms and complaints as screening tools for OSAS in Treacher-Collins syndrome (TCS).
Study Design: Cross-sectional cohort study.
Methods: In 35 TCS patients (13 children, 22 adults) in whom diagnostic polysomnographic results on OSAS were available, the Brouillette score was evaluated in children and the Epworth Sleepiness Scale in adults.