{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:35:00Z","timestamp":1777523700403,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T00:00:00Z","timestamp":1625788800000},"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":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C&gt;G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.<\/jats:p>","DOI":"10.1177\/10556656211028505","type":"journal-article","created":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T04:39:46Z","timestamp":1625805586000},"page":"817-820","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care"],"prefix":"10.1177","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6040-0784","authenticated-orcid":false,"given":"Sarut","family":"Chaisrisawadisuk","sequence":"first","affiliation":[{"name":"Cleft and Craniofacial South Australia, Women\u2019s and Children\u2019s Hospital, North Adelaide, South Australia, Australia"},{"name":"Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark H","family":"Moore","sequence":"additional","affiliation":[{"name":"Cleft and Craniofacial South Australia, Women\u2019s and Children\u2019s Hospital, North Adelaide, South Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,7,9]]},"reference":[{"key":"bibr1-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-199805000-00002"},{"key":"bibr2-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-199607000-00005"},{"key":"bibr3-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-199801000-00018"},{"key":"bibr18-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.4.250"},{"key":"bibr4-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1997.08060425.x"},{"key":"bibr5-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36774"},{"key":"bibr6-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450305"},{"key":"bibr7-10556656211028505","first-page":"354","volume-title":"Craniosynostosis Diagnosis, Evaluation, and Management","author":"Cohen MM","year":"2000","edition":"2"},{"key":"bibr8-10556656211028505","volume-title":"StatPearls","author":"Das JM","year":"2020"},{"key":"bibr9-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000006064"},{"key":"bibr10-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220608.40155.d4"},{"key":"bibr11-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140108"},{"key":"bibr12-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e31824422a8"},{"key":"bibr13-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_1995_032_0062_psacr_2.3.co_2"},{"key":"bibr14-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-269"},{"key":"bibr15-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447500"},{"key":"bibr16-10556656211028505","volume-title":"GeneReviews\u00ae [Internet]","author":"Robin NH","year":"2011"},{"key":"bibr17-10556656211028505","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00012"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656211028505","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10556656211028505","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656211028505","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:21:39Z","timestamp":1777393299000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10556656211028505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,9]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1177\/10556656211028505"],"URL":"https:\/\/doi.org\/10.1177\/10556656211028505","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,9]]}}}