|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Emery-Nelson syndrome
Associated persons:
Alan Eglin Heathcote Emery
Matilda M. Nelson
Description:
Disturbance characterized by the trias of short stature, deformities of hands and feet - flexion contractures of the first three metacarpohalangeal joints of the thumb, and clawed toes as well as a flat face profile - flat malar region, high forehead, and long philtrum; dry and coarse hair, and thin and shiny skin. There is also retarded physical and mental development. The syndrome is believed to be transmitted as either an autosomal dominant or an X-linked dominant trait. Only described in a mother and daughter.
Bibliography:
- A. E. H. Emery, M. M. Nelson:
A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies.
Journal of Medical Genetics, London, 1970, 7: 379-382.
|
|
|
