Article
Novel spinal dysplasia in two generations.
American journal of medical genetics - 13 Mar 1995
Anhalt H, Parker B, Paranjpe D V, Neely E K, Silverman F N, Rosenfeld R G
Abstract excerpt
We report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic evaluation of the propositus (son), obtained due to maternal pre-eclampsia, suggested an abnormal spine. At birth, no congenital anomalies were noted and transition to...
Topics
- Adult
- Child, Preschool
- Dysostoses
- Genes, Dominant
- Humans
- Kyphosis
- Male
- Mutation
- Scoliosis
- Spine