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

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.