Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present the case of a 12-year-old girl with Pfeiffer's syndrome who underwent successful resection of a tracheal cartilaginous sleeve (TCS) for treatment of sleep apnea. There is growing recognition of the inclusion of TCS in the spectrum of congenital cartilage malformations seen in patients with craniosynostosis (CS) syndromes. This case demonstrates the difficult therapeutic challenge created by the combination of hypopharyngeal and intrinsic airway abnormalities present in CS patients. The early recognition of TCS in these patients may provide the opportunity for improved outcome in this severely affected subgroup of CS patients with otherwise high mortality.
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PMID:Congenital tracheal anomalies in the craniosynostosis syndromes. 1039 32

Syndromic craniosynostosis is known to be associated with various obstructive respiratory disorders, including sleep apnoea. We performed early midfacial distraction in 11 syndromic craniosynostotic patients with obstructive respiratory apnoea and obtained good results. There were four patients with Crouzon syndrome, three patients with Pfeiffer syndrome and four patients with Apert syndrome. Their ages ranged from 7 months to 3 years, 9 months (mean: 2 years, 5 months). Midfacial distraction was performed using an internal or external device to improve obstructive respiratory disorders, such as sleep apnoea, and to avoid tracheostomy. Evaluation was performed by comparison of the pre- and postoperative polysomnograms (PSGs) and cephalograms. All patients had markedly improved respiratory disorders during sleep and avoided tracheostomy. Preoperative PSGs and cephalograms were compared with those from 1 year to 1 year, 6 months postoperatively. The postoperative PSGs and cephalograms showed marked improvements compared with preoperative PSGs and cephalograms. Syndromic craniosynostotic patients have facial bone hypoplasia, particularly of the maxilla. The tongue and parapharyngeal soft tissue become enlarged, and the enlarged tissues can cause airway obstruction. In this study, marked improvements were observed in physical evaluation using PSGs and morphological evaluation using cephalograms. Early midfacial distraction is thought to be a very useful method to reconstruct a large pharyngeal cavity, enlarge the airway, improve obstructive respiratory disorders and to avoid tracheostomy. It is important to select a device suitable for each case when surgery and distraction are performed.
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PMID:Early midfacial distraction for syndromic craniosynostotic patients with obstructive sleep apnoea. 2370 95