{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:57:11Z","timestamp":1777694231551,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:00:00Z","timestamp":1751587200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:00:00Z","timestamp":1751587200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>We report a case of acrocephalosyndactyly, Pfeiffer syndrome type 1 with a mutation in FGFR2 c.758C&gt;G (p.Ser253Trp) in a newborn with mild midfacial hypoplasia, significant brachydactyly and syndactyly in the hands and feet. One of the hallmark features of Pfeiffer syndrome is webbing or fusion (syndactyly) of the fingers and toes, which can vary in severity affecting both hands and feet. This variable expressivity of Pfeiffer syndrome makes classification of the condition challenging. Diagnosis was confirmed by genetic testing. Imaging investigations, clinical observation and physical examination further highlights the importance of interdisciplinary care involving orthopedic, neurosurgeons, geneticists, and pediatricians. Long-term follow-up is essential to monitor growth and development, while addressing associated complications including hearing loss and tracheal stenosis. This case underscores the complexity of acrocephalosyndactyly and its varying presentation. The baby was born at 35\u2009weeks to non-consanguineous parents, with craniosynostosis, midfacial hypoplasia, broad thumbs, and toes.<\/jats:p>","DOI":"10.1177\/11795476251353333","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T05:58:07Z","timestamp":1751608687000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report"],"prefix":"10.1177","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5267-2880","authenticated-orcid":false,"given":"Justus Omokhafe","family":"Justus","sequence":"first","affiliation":[{"name":"Department of Medicine, Caucasus International University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,7,4]]},"reference":[{"key":"e_1_3_3_2_2","volume-title":"StatPearls [Internet]","author":"Das JM","year":"2023","unstructured":"Das JM, Winters R. 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Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report. 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