A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

Am J Med Genet A. 2006 Apr 15;140(8):804-12. doi: 10.1002/ajmg.a.31160.


We describe a novel autosomal recessive malformation syndrome in four related individuals from a geographically isolated Native Alaskan community, who have facial defects similar to those of individuals with Treacher Collins (TCS) and Miller syndrome. Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. Variable extracranial findings include atrioseptal defect, renal dysplasia, and imperforate anus, however, no limb defects have been observed. Cranial imaging studies demonstrate relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alaska
  • Child
  • Child, Preschool
  • Ear / abnormalities*
  • Ear / physiopathology
  • Eye Abnormalities / genetics
  • Eye Abnormalities / physiopathology*
  • Facial Bones / abnormalities*
  • Facial Bones / diagnostic imaging
  • Facial Bones / physiopathology
  • Female
  • Genes, Recessive*
  • Hearing Loss / genetics
  • Hearing Loss / physiopathology
  • Humans
  • Infant
  • Inuit / genetics*
  • Male
  • Pedigree
  • Tomography, X-Ray Computed