The 50 Most-Cited Publications in Pfeiffer Syndrome: A Bibliometric Review

Pfeiffer syndrome is a rare autosomal dominant craniosynostosis syndrome associated with craniofacial, neurologic, respiratory, visual, auditory, and musculoskeletal morbidity. Although bibliometric analyses have examined craniosynostosis broadly, none have focused on Pfeiffer syndrome. This study aimed to characterize the 50 most-cited publications focused on Pfeiffer syndrome.

The Web of Science Core Collection was searched on June 16, 2026, using the term "Pfeiffer syndrome," without language restrictions. Of 772 publications, 382 were evaluated in descending citation order until the 50 most-cited articles primarily or exclusively focused on Pfeiffer syndrome were identified. Bibliometric characteristics, research themes, and study designs were analyzed descriptively.

The 50 included articles were published from 1972 through 2017 and received 2584 total citations. The mean citation count was 51.68 (median: 27; range: 14-522). The 1994 article by Muenke et al was the most cited (522 citations). Molecular genetics and genotype-phenotype relationships were the most common research theme, accounting for 14 articles (28%). Case reports were the most common study design, comprising 20 articles (40%); together, case reports, case series, and observational studies accounted for 37 articles (74%). Thirty-eight institutions were represented, with Great Ormond Street Hospital for Children contributing the most articles (n=5, 10%).

The most-cited Pfeiffer syndrome literature reflects the evolution of the field from clinical characterization to molecular genetics, prenatal diagnosis, multidisciplinary surveillance, and craniofacial treatment. The predominance of descriptive studies and limited surgical outcomes research highlights opportunities for multicenter prospective studies evaluating standardized long-term outcomes.