Çocuk Sağlığı ve Hastalıkları Dergisi 2019 , Vol 62 , Num 3-4
Respiratory distress in an infant with achondroplasia
Akçahan Akalın *1 ,Pelin Özlem Şimşek Kiper *2 ,Gülen Eda Utine *3
1 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Uzmanı, Ankara
2 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Doçenti, Ankara
3 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Profesörü, Ankara
Akalın A, Şimşek Kiper PÖ, Utine GE. (Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey). Respiratory distress in an infant with achondroplasia. Çocuk Sağlığı ve Hastalıkları Dergisi 2019; 62: 67-70.

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. Anahtar Kelimeler : achondroplasia, respiratory distress, obstructive sleep apnea, cervicomedullary compression

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