Otolaryngologic manifestations of achondroplasia

Arch Otolaryngol Head Neck Surg. 2007 Mar;133(3):237-44. doi: 10.1001/archotol.133.3.237.


Objective: To describe the common otolaryngologic manifestations in patients with achondroplasia.

Design: Retrospective review.

Setting: Tertiary care children's hospital.

Patients: Twenty-two patients with achondroplasia, who were treated from 1994 to 2005, with a focus on otolaryngologic diagnoses.

Main outcome measures: Descriptive statistics of common otolaryngologic diagnoses in patients with achondroplasia.

Results: Of the 22 patients, 15 (68%) received an otologic diagnosis, including 6 with recurrent otitis media and 5 with otitis media with effusion, and 11 patients (50%) underwent an otologic procedure, with 10 undergoing tympanostomy tube insertion. Nine patients (41%) had adenotonsillar hypertrophy, 6 of whom had polysomnogram-documented obstructive sleep apnea. Seven patients underwent adenotonsillectomy (TA). Two patients had significant residual postoperative obstructive sleep apnea, and 1 patient died from acute respiratory distress syndrome following TA. All patients had preoperative neurosurgical evaluation for foramen magnum stenosis, with 11 (50%) requiring decompression. No other airway or laryngeal diagnoses were seen.

Conclusion: Patients with achondroplasia often present with common diagnoses such as otitis media and adenotonsillar hypertrophy, and familiarity with the condition and its common otolaryngologic manifestations improves the likelihood of successful patient care.

MeSH terms

  • Achondroplasia / complications*
  • Adenoidectomy
  • Adolescent
  • Adult
  • Airway Obstruction / etiology*
  • Airway Obstruction / therapy
  • Child
  • Child, Preschool
  • Constriction, Pathologic
  • Female
  • Foramen Magnum / pathology
  • Hearing Loss, Conductive / diagnosis
  • Hearing Loss, Conductive / etiology*
  • Hearing Loss, Conductive / therapy
  • Humans
  • Male
  • Middle Ear Ventilation
  • Otitis Media / physiopathology
  • Palatine Tonsil / pathology
  • Polysomnography
  • Retrospective Studies
  • Sleep Apnea, Obstructive / diagnosis
  • Sleep Apnea, Obstructive / etiology*
  • Tonsillectomy