title: [Pyknodysostosis: extreme cause of sleep apnea].
abstract: 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.
authors.affiliation: Departamento de Cirugía Pediátrica, Hospital Infantil La Paz, Madrid.
authors.forename: J C
authors.initials: JC
authors.lastname: de Agustín
authors.forename: P
authors.initials: P
authors.lastname: Jover
authors.forename: M
authors.initials: M
authors.lastname: León
authors.forename: A
authors.initials: A
authors.lastname: Oliver
authors.forename: E
authors.initials: E
authors.lastname: Izal
authors.forename: J G
authors.initials: JG
authors.lastname: Utrilla
mesh_terms: D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D004413:Dysostoses / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D008334:Mandible / Q000002:abnormalities; D012891:Sleep Apnea Syndromes / Q000209:etiology*
vernacular_title: Picnodisostosis: causa extrema de apnea del sueño.