Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2

Int J Pediatr Otorhinolaryngol. 2011 Mar;75(3):433-7. doi: 10.1016/j.ijporl.2010.12.004. Epub 2011 Jan 3.


The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11 months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20 months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Audiometry
  • Auditory Threshold
  • Child, Preschool
  • Collagen Type XI / genetics*
  • Dwarfism
  • Evoked Potentials, Auditory, Brain Stem
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Mutation
  • Osteochondrodysplasias / genetics
  • Otoacoustic Emissions, Spontaneous
  • Speech Intelligibility
  • Spinal Diseases / genetics


  • COL11A2 protein, human
  • Collagen Type XI

Supplementary concepts

  • Megaepiphyseal dwarfism