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.
Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE. Pfeiffer Syndrome: An Unusual Type of Acrocephalosyndactyly With Broad Thumbs and Great Toes. Am J Dis Child. 1971;121(3):257–262. doi:10.1001/archpedi.1971.02100140123018
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: