Article
Familial dwarfism and painful muscle spasms.
Medicina - 1 Jan 1995
Sica R E, Espinoza R, Benavente O, Sanz O P, Molina H
Abstract excerpt
We report a family with a disorder characterized by limbs and truncal undulating painful muscle spasms, short stature, fine and sparse hair in the scalp, absence of body hair, low implanted ears, big nose, pitched voice, enlarged heart ventricles and increased fasting glucose levels. Symptoms began in childhood and did not progress after the third decade of life. This disorder represents a new clinical phenotype...
Topics
- Adult
- Dwarfism
- Humans
- Male
- Muscle Contraction
- Pedigree
- Phenotype
- Spasm