A rare anomaly affecting both sexes and present from birth. Characteristic features include short legs due to absence of the tibia bilaterally, polydactyly of hands and feet, absence of thumbs, reduced knee movements. Inheritance is autosomal dominant with high penetrance and very variable expression.
- P. Werner:
Über einen seltenen Fall vom Zwergwuchs.
Archiv für Gynäkologie, Berlin, 1919; 104: 278-300.
- G. O. Eaton, V. A. McKusick:
A seemingly unique polydactyly-syndactyly syndrome in four persons in three generations.
Birth Defects Original Article Series, New York Ser V, 1969; 3: 221-225.
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