Article
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.
American journal of medical genetics. Part A - 1 Apr 2005
Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei M G, Bollini G
Abstract excerpt
We report the case of a girl presenting with an unusual form of multiple joint fusion. Skeletal abnormalities consisted of radioulnar synostosis and vertebral fusions without any carpal, digital or tarsal involvement, and broad ribs and clavicles. Spinal X-rays were available from age 4 to 21, demonstrating that the spinal involvement was progressive and led to a complete anterior and lateral fusion of vertebrae....
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Bone Morphogenetic Proteins
- Carrier Proteins
- Child
- Child, Preschool
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 20
- DNA Mutational Analysis
- Female
- Follow-Up Studies
- Growth Disorders