Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas

Am J Med Genet. 1996 Jan 2;61(1):71-4. doi: 10.1002/(SICI)1096-8628(19960102)61:1<71::AID-AJMG14>3.0.CO;2-T.


We report extreme expression of Treacher Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in the sister. The father had no signs and was not ruled out as the father by DNA fingerprinting, thus making homozygosity by descent in the severely affected son very unlikely.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5
  • Coloboma / genetics*
  • DNA Fingerprinting
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mandibulofacial Dysostosis / genetics*
  • Nose / abnormalities*
  • Phenotype
  • Pregnancy
  • Skull / diagnostic imaging
  • Tomography, X-Ray Computed
  • Uvea / abnormalities*