Irreversible respiratory failure in an achondroplastic child: The importance of an early cervicomedullary decompression, and a review of the literature

Sleep disordered breathing in children with achondroplasia

“…The major findings are low height and craniofacial hypoplasia, particularly relative anterior cross bite due to growth failure of the maxilla [1][2][3][4]. As functional impairment, sleep disordered breathing has been reported [5,6]. To evaluate the present status of sleep disordered breathing in children with achondroplasia, we previously carried out a questionnaire survey of breathing during sleep and found higher incidences of snoring and apnea during sleep in children with achondroplasia than in healthy children [7].…”

Cervicomedullary decompression for foramen magnum stenosis in achondroplasia

“…9,11 Manifestations include apnea, tachypnea, excessive snoring, cor pulmonale, recurrent pneumonia, and sudden infant death syndrome. 2 These symptoms may result from primary pulmonary problems such as a small thoracic cage or airway obstruction, neurological compression, or a combination of factors. Compression of the brainstem's respiratory centers may interfere with central respiratory drive and cause central sleep apnea.…”

Surgical treatment for sleep apnea: changes in craniofacial and pharyngeal airway morphology in a child with achondroplasia

“…Achondroplasia (AP) is an autosomal dominant disease characterized by low stature, morphological abnormalities such as cranial and maxillo-facial hypogrowth, and functional disorders such as sleep-disordered breathing (1)(2)(3)(4)(5). In a previous study, to evaluate the status of sleepdisordered breathing in children with AP, we conducted a questionnaire survey of breathing during sleep, and found higher incidences of snoring and apnea during sleep in children with AP than in healthy children (6).…”