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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.
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Frias' syndrome
Associated persons:
Jaime L. Frias
Description:
Distinct form of the multiple pterygium syndrome with ptosis and skeletal anomalies. Frias and collaborators described the disease i 1973 on the basis of a family with affected persons in successive generations. Inheritance is autosomal dominant. This may be the same as Escobar’s syndrome.
See also Escobar’s syndrome, or familial pterygium syndrome, under Victor Escobar, American human geneticist, Indianapolis.
Bibliography:
- Jaime L. Frias, J. R. Holahan, A. L. Rosenbloom, A. H. Felman:
An autosomal dominant syndrome of multiple pterygium, ptosis, and skeletal anomalities.
Fourth International Conference on Birth Defects.
Vienna 1973. Excerpta Medica, 19.
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