Severe snoring in a child with pycnodysostosis treated with a bilateral rib graft

Area of Science:

• Genetics and rare diseases
• Pediatric surgery
• Otorhinolaryngology

Background:

• Pycnodysostosis is a rare autosomal recessive disorder characterized by osteopetrosis and skeletal abnormalities.
• Patients with pycnodysostosis often exhibit craniofacial anomalies, including mandibular hypoplasia, which can lead to airway compromise.
• Severe snoring in pediatric patients can indicate underlying obstructive sleep apnea or other airway issues.

Observation:

• A 3.5-year-old boy with diagnosed pycnodysostosis presented with severe snoring.
• Pharyngeal narrowing, secondary to a hypoplastic mandible and glossoptosis, was identified as the cause of the snoring.
• The patient's condition posed a high risk for surgical complications such as infection, nonunion, and secondary fracture.

Findings:

• Surgical intervention involved a bilateral rib graft to enlarge the pharynx.
• The procedure achieved anterior projection of the chin and reduced glossoptosis.
• Significant reduction in snoring and excellent mouth aperture were observed post-surgery.

Implications:

• Bilateral rib grafting is a viable surgical option for managing airway obstruction in pediatric pycnodysostosis.
• This technique effectively addresses pharyngeal narrowing, hypoplastic mandible, and glossoptosis.
• The surgical approach minimizes risks associated with infection, nonunion, and secondary fractures in high-risk patients.