Article
The Liebenberg syndrome: in depth analysis of the original family.
The Journal of hand surgery, European volume - 1 Nov 2014
Mennen U, Mundlos S, Spielmann M
Abstract excerpt
The Liebenberg syndrome was first described in 1973 in a five- generation family. A sixth generation was added in 2001, and in 2009 a hitherto unknown branch of the same family with similar anomalies extended the family tree significantly. This article describes the clinical findings and illustrates the abnormalities with radiographs and three-dimensional computed tomography scans. We discuss the genetic...
Topics
- Brachydactyly
- Carpal Bones
- Chromosome Aberrations
- Chromosomes, Human, Pair 5
- Elbow
- Elbow Joint
- Female
- Fingers
- Gene Rearrangement
- Genes, Dominant
- Hand
- Hand Deformities, Congenital
- Humans
- Humerus
- Imaging, Three-Dimensional
- Male
- Paired Box Transcription Factors
- Pedigree