Article
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.
American journal of medical genetics - 2 Jan 1996
Hansen M, Lucarelli M J, Whiteman D A, Mulliken J B
Abstract excerpt
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 t...
Topics
- Adult
- Brain
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Coloboma
- DNA Fingerprinting
- Female
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mandibulofacial Dysostosis
- Nose
- Phenotype
- Pregnancy
- Skull
- Tomography, X-Ray Computed