Laryngomalacia and intra-neural striated muscle in an infant with the Freeman-Sheldon syndrome

Int J Pediatr Otorhinolaryngol. 1993 Jan;25(1-3):243-8. doi: 10.1016/0165-5876(93)90059-c.


Striated muscle cells within peripheral nerve trunks, a very rare dishistogenetic lesion, was found in the arytenoid submucosa of a ten and a half week old afroamerican male with the Freeman-Sheldon syndrome (craniocarpotarsal dysplasia) who presented with obstructive apnea. Laryngomalacia was confirmed endoscopically. Supraglottoplasty offered temporary relief of the obstruction. Our histopathological observation is puzzling and perhaps adds a new dimension to the appropriateness of 'dysplasia'. It remains to be seen whether the neuromuscular lesion is a coincidental finding, a mere curiosity or bears any clinical significance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Apnea / etiology
  • Choristoma / complications
  • Choristoma / pathology*
  • Humans
  • Infant
  • Laryngeal Diseases / pathology*
  • Male
  • Microstomia / complications*
  • Muscles*
  • Peripheral Nervous System Neoplasms / complications
  • Peripheral Nervous System Neoplasms / pathology*
  • Syndrome