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.
- 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.
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