Summary
A newborn girl is reported with seemingly typical Apert syndrome with preaxial polysyndactyly of the feet. As a result of reevaluation of familial cases of acrocephalosyndactyly with polysyndactyly, acrocephalosyndactyly is suggested to be divided into two major groups. Apert-Pfeiffer type (acrocephalosyndactyly type I) is characterized by Crouzon-like facies, hallux varus and severe syndactyly. Saethre-Chotzen/ Robinow-Sorauf type (acrocephalosyndactyly type II) is characterized by Saethre-Chotzen facies, hallux valgus and mild syndactyly. Each type should have atypical forms with polysyndactyly due to pleiotropic effect of a dominant gene.
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Izumikawa, Y., Naritomi, K., Ikema, S. et al. Apert syndrome with partial polysyndactyly: A proposal on the classification of acrocephalosyndactyly. Jap J Human Genet 33, 487–492 (1988). https://doi.org/10.1007/BF01897790
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DOI: https://doi.org/10.1007/BF01897790
