Achondroplasia is the most common skeletal dysplasia inherited in an autosomal dominant manner and characterized by disproportionate short stature, rhizomelic shortening of the limbs, relative macrocephaly, midface hypoplasia and thoracolumbar kyphosis. Respiratory disorders such as obstructive sleep apnea syndrome, central apnea, restrictive lung disease, and central nervous system complications (cervicomedullary compression, spinal cord compression and hypotonia) may accompany the disorder. Sudden death can be seen during the neonatal period due to neurological and respiratory complications. A 4 month-old child with the diagnosis of achondroplasia was admitted to our clinic with severe respiratory depression, oxygen requirement and recurrent lower respiratory tract infections. He was hospitalized for respiratory failure. Polysomnography and neuroradiological imaging were planned for obstructive sleep apnea and craniocervical junction stenosis. However, clinical severity of the respiratory failure did not allow investigation of these comorbidities. Respiratory comorbidities may accompany patients with achondroplasia.

Keywords: achondroplasia, respiratory distress, obstructive sleep apnea, cervicomedullary compression