AUTHOR=di Palmo Emanuela , Gallucci Marcella , Tronconi Elena , Bergamaschi Rosalba , Cazzato Salvatore , La Scola Claudio , Ricci Giampaolo , Pession Andrea 

TITLE=Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 6 - 2018

YEAR=2018

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2018.00213

DOI=10.3389/fped.2018.00213

ISSN=2296-2360

ABSTRACT=The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. This condition leads to specific craniofacial dysmorphisms associated with upper airway obstruction that may result in obstructive sleep apnea.