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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a twentieth month old infant who had a pycnodysostosis syndrome. This malformation shows a loss of the normal mandible angle with generalized bone hyperdensification. The first produced and airway obstruction, with special relevance during sleeping hours. A polysomnography revealed an obstructive sleep apnea syndrome. The respiratory picture deteriorated with worsening of the airway obstruction, hypoxemia and finally pulmonary hypertension and cor pulmonale. A tracheostomy was performed, with resolution of the sleep apnea and pulmonary hypertension. The etiology, pathophysiologic consequences and surgical treatment of obstructive sleep apnea syndrome is reviewed.
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PMID:[Pyknodysostosis: extreme cause of sleep apnea]. 150 55

We report on pycnodysostosis presenting as severe snoring caused by pharyngeal narrowing in two siblings. Cephalograms showed pharyngeal narrowing at the level of the soft palate and the base of the tongue caused by the long soft palate and mandibular hypoplasia. From the literature review and our results, we suggest that respiratory insufficiency such as snoring or obstructed sleep apnea are common and under-appreciated symptoms of pycnodysostosis.
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PMID:Pharyngeal narrowing as a common feature in pycnodysostosis--a cephalometric study. 1605 95

Pycnodysostosis is a rare autosomal recessive skeletal disorder involving a constellation of craniofacial manifestations including midface retrusion. We report the case of a 13-year-old girl with pycnodysostosis who presented with exorbitism, midface retrusion, malocclusion, and obstructive sleep apnea. Here, we describe the successful use of subcranial Le Fort III advancement using distraction osteogenesis with internal Kawamoto distracters. After a latency of 5 days, distraction for 10 days, and consolidation for 12 weeks, her midface was advanced by 10 mm with slight overcorrection at the occlusion level. At 2 years postoperatively, the patient had complete remission of her sleep apnea, resolution of her exorbitism, and amelioration of her class III malocclusion to class I. To the best of our knowledge, this is the first report of a successful subcranial Le Fort III midface advancement with distraction osteogenesis for craniofacial reconstruction of a pycnodysostosis. Our report highlights the surgical options that have been described for this craniofacial deformity and presents a novel and expedient approach for patients with pycnodysostosis presenting with exorbitism, midface retrusion, and/or sleep apnea.
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PMID:A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism. 2385