Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Background: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based on levels of evidence and supported with graded recommendations.

Methods: A systematic search was performed by means of the PubMed, Web-of-Science, Embase, and Cochrane Central databases (1985 to January of 2014).

Nasal sequelae of Treacher Collins syndrome.

Objective: This study aimed to determine external and endonasal deformity, and satisfaction with nasal functioning and appearance, in Treacher Collins syndrome.

Study Design: A cross-sectional cohort study was conducted.

Methods: Eleven adult patients with Treacher Collins syndrome were compared with 151 controls in terms of satisfaction with nasal functioning and appearance by means of the Nasal Appearance and Function Evaluation Questionnaire.

Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome.

Aim: This study aimed to determine which facial features and functions need more attention during surgical treatment of Treacher Collins syndrome (TCS) in the long term.

Method: A cross-sectional cohort study was conducted to compare 23 TCS patients with 206 controls (all≥18 years) regarding satisfaction with their face. The adjusted Body Cathexis Scale was used to determine satisfaction with the appearance of the different facial features and functions.

Screening for obstructive sleep apnea in Treacher-Collins syndrome.

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.

Hearing in adults with Pompe disease.

Hearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α-glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and pure-tone audiometry.

Upper airway changes in syndromic craniosynostosis patients following midface or monobloc advancement: correlation between volume changes and respiratory outcome.

In syndromic craniosynostosis patients, respiratory insufficiency may be a pressing indication to surgically increase the patency of the upper airway by midface or monobloc advancement. In this study the volume changes of the upper airway and the respiratory outcome following midface (Le Fort I or III) or monobloc advancement in ten syndromic craniosynostosis patients are evaluated. Pre- and postoperatively, the airway volume was measured using a semi-automatic region growing method.

Differences in cartilage-forming capacity of expanded human chondrocytes from ear and nose and their gene expression profiles.

The aim of this study was to evaluate the potential of culture-expanded human auricular and nasoseptal chondrocytes as cell source for regeneration of stable cartilage and to analyze the differences in gene expression profile of expanded chondrocytes from these specific locations. Auricular chondrocytes in monolayer proliferated less and more slowly (two passages took 26.7 ± 2.

Endoscopic-assisted reconstructive surgery of the lacrimal duct.

Reconstructive surgery of the nasolacrimal duct, or dacryocystorhinostomy, can be performed via an external or endonasal approach. For almost a century external dacryocystorhinostomy was the gold standard for correction of lacrimal duct obstruction. The endonasal approach became a safe surgical procedure using endoscopes and has the same anatomic and functional success rate as the external approach.