Article
Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
American journal of medical genetics - 15 Jul 2002
Shotelersuk Vorasuk, Punyashthiti Rachaneekorn, Srivuthana Sumarlee, Wacharasindhu Suttipong
Abstract excerpt
We describe six Thai children with the Kabuki syndrome. Monozygotic twin boys discordant for the syndrome were encountered in a family. The affected twin had all five cardinal features of the syndrome, whereas the unaffected twin had none of them. The presence of monozygotic twins discordant for the syndrome argues against a single gene origin of the disorder, but by no means excludes it. In another family, a...
Topics
- Abnormalities, Multiple
- Adolescent
- Child, Preschool
- Face
- Female
- Growth Disorders
- Humans
- Infant
- Intellectual Disability
- Male
- Phenotype
- Skin Abnormalities
- Syndrome
- Thailand
- Twins, Monozygotic