Pharyngeal narrowing as a common feature in pycnodysostosis-a cephalometric study

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.