Distinct form of the multiple pterygium syndrome with ptosis and skeletal anomalies.
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.
- 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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