A case of atypical Treacher-Collins syndrome

Hirotake Fujiwara, Michio Sugihara, Toshihiko Matsuo, Miki Nouso, Satoshi Hasebe, Hiroshi Ohtsuki

Research output: Contribution to journalArticlepeer-review


We report a 15 month-old male with atypical Treacher-Collins syndrome, who presented with strabismus due to hyperexotropia of the right eye. The diagnosis was based on findings of micrognathia, lowness and hypoplasia of bilateral external ears, conductive deafness, ventricular extrasystole, nursing difficulty, abnormal arrangement of the teeth and mental retardation. Magnetic resonance imaging showed hyperplasia of the cartilage involving the left trochlea and osteo-hyperplasia of the right internal ear; moreover, increased fatty tissue was found between the inner wall and medial rectus muscle of the left orbit. These findings suggest mild dysplasia of the orbital bone. The mechanism of strabismus remains unknown, but this orbital deformity could cause malposition of the eye.

Original languageEnglish
Pages (from-to)1154-1157
Number of pages4
JournalFolia Ophthalmologica Japonica
Issue number9
Publication statusPublished - Sep 1 1997


  • Atypical Form
  • Micrognathia
  • Strabismus
  • Treacher-Collins Syndorome

ASJC Scopus subject areas

  • Ophthalmology


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