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March 1971

Pfeiffer Syndrome: An Unusual Type of Acrocephalosyndactyly With Broad Thumbs and Great Toes

Author Affiliations

From the departments of neurology (Dr. Cracco), pediatrics (Dr. Carpenter), and radiology (Dr. O'Hara), Jefferson Medical College, Philadelphia. Dr. Martsolf is now with the Harrisburg Polyclinic Hospital, Harrisburg, Pa.

Am J Dis Child. 1971;121(3):257-262. doi:10.1001/archpedi.1971.02100140123018

A 4-year-old male child with acrocephaly, minimal syndactyly, broad thumbs and great toes, and normal intelligence is classified as having acrocephalosyndactyly type V, or Pfeiffer syndrome. This syndrome is compared with the other acrocephalosyndactyly types and the various broad thumb and great toe syndromes. These entities differ mainly in the type of digital anomaly, the craniofacial characteristics, the presence or absence of growth or mental retardation, and the mode of inheritance. The importance of diagnostic separation of these syndromes is stressed.