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Pycnodysostosis is a rare autosomic recessive skeletal dysplasia due to a defect in the cathepsin K enzyme gene. Both sexes are affected and it's characterized by short stature, osteosclerosis, mandibular hypoplasia, delayed fontanel closure, separated cranial sutures, abnormal dental development, clavicle dysplasia, and terminal phalanx aplasia.
Obstructive sleep apnea, characterized by prolonged and intermittent upper airway obstruction, is severe in children with pycnodysostosis due to the craniofacial skeleton pattern they present, which may lead to cardiorespiratory disorders. Several anatomical and functional mechanisms may contribute to upper airway obstruction in pycnodysostosis. In particular, the arched shape of the palate, the maxillary hypoplasia and obtuse mandibular angle may cause retroposition of the base of the tongue and reduction of airway diameter.


Report a case of Pycnodysostosis and its repercussion on obstructive sleep apnea.


RSL, female, 13 yo, diagnosed with picnodisostosis, complains about nocturnal stop breathing, snoring and excessive diurnal somnolence. Tonsillectomized. STOP BANG 3; Epworth scale 13. Clinical examination highlighting, prognathism, left septal deviation, ogival palate and class III bite, thick uvula. Nasolaryngofibroscopy: estimated adenoid hypertrophy of 70% of rhinopharynx, epiglottis in omega, reduction of pharyngeal anteroposterior diameter.
Polysomnography type 1 was performed, with serious AOS diagnosis with apnea-hypopnea index of 55 events/hour.diagnosed.


The clinical and nasofibroscopical evaluation of the patient allowed the detection of two different sites of obstruction: nasopharyngeal area, due to the presence of adenoid vegetation and hypopharyngeal area with reduction of posterior anterior diameter. Therefore, the surgical treatment proposed was the adenoidectomy to improve the nasopharyngeal space, and posterior orthodontic evaluation to perform maxillary disjunction and advancement to improve the hypopharingeal space. While the patient is on surgical preparation, she was followed by an important improvement of the respiratory pattern and complaints with positive continuous pressure device.


The patient’s obstruction degree was very marked. The obstructive apnea has a multifactorial etiology and the treatment usually consists in a “multilevel” surgery.


Sleep disorders; apnea; picnodisostosis


Relato de Caso


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