TY - JOUR T1 - Sleep disordered breathing in pycnodysostosis patients JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - P2277 AU - Nilay Bas Ikizoglu AU - Yasemin Gokdemir AU - Serap Turan AU - Zeynep Atay AU - Belma Haliloglu AU - Fazilet Karakoc AU - Bulent Karadag AU - Refika Ersu Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/P2277.abstract N2 - Background: Pycnodysostosis is an autosomal recessive disease characterized by short stature, osteosclerosis, increased bone fragility. In these patients maxillary and mandibular hypoplasia, flattening of the mandibular angle, long soft palate, narrow palate structure can lead to pharyngeal narrowing and obstructive sleep apnea syndrome (OSAS). Our aim was to evaluate sleep disordered breathing in children with pycnodysostosis.Methods: Demographic data, pediatric sleep questionnaire (PSQ) scores, polysomnography results and treatments of pycnodysostosis patients who were followed by Pediatric Endocrinology Department in Marmara University were evaluated.Results: Mean age of the eight patients (7 girls, one boy) in the study was 12.2 ± 4.2 years, mean age at diagnosis was 6.5 ± 4 years. Habituel snoring was reported in 7 (87%) and apnea during sleep was reported in 3 (37.5%) patients. Two patients had adenoidectomy and one had tonsillectomy. 4 patients (50%) received growth hormone. Mean PSQ score was 0.41 ± 0.19. Polysomnography revealed OSAS in six patients (75%). Two (25%) had severe and four (50%) had mild OSAS. OSAS was detected in 5 of 6 patients with PSQ score greater than 0.33. One of the two patients with PSQ score less than 0.33 had mild OSAS. OAHI ranged between 0-15.1 (median 2.9), central apnea index ranged between 0-2.1 (median 0.4). Mean SpO2 value was 94.5± 1.6% and lowest SpO2 value was 90.5 ± 3.5%. BPAP was started in three patients. Control PSG was planned for other patients during follow-up.Conclusion: Sleep related breathing disorders are frequent in pycnodysostosis and although PSQ can be used to screen, polysomnography should be offered to all patients with pycnodysostosis. ER -