| Literature DB >> 23463414 |
H Grundig1, B Sinikovic, J Günther, M Jungehülsing.
Abstract
Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.Entities:
Mesh:
Year: 2013 PMID: 23463414 DOI: 10.1007/s00106-012-2655-2
Source DB: PubMed Journal: HNO ISSN: 0017-6192 Impact factor: 1.284