{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:14:39Z","timestamp":1740147279916,"version":"3.37.3"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Pfieffer syndrome is among the syndromes seen in the recognized variant of the FGFR2 gene. There are several conditions related to this variant and a very closely related condition is Crouzon syndrome. This case is important to report because the neonate was a delayed referral from another region, without clear counseling and information on the gravity of situation. We describe additional features , not previously described in Pfieffer or Crouzon syndrome, supernumerary teeth and localized symmetrical gigantism of thumbs and great toes on both sides. That a genetic testing is essential to further manage and counsel to avoid lost opportunities for future births. Several cases are seen in this unit annually, and there is need for a more consolidated and comprehensive counseling and genetic testing. Once early diagnosis is done and the case is recognized to be untreatable, it was avert the need to refer.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 2-week-old male African neonate referred from outside the region, presented with massive proptosis soon after delivery, with signs of pan-ophthalmitis and neonatal sepsis. The infant had additional multiple malformations and features initially diagnosed as Crouzon syndrome , but later confirmed after genetic testing to be Type II Pfieffer syndrome. A through clinical evaluation and genetic testing would prevent undue referral to a tertiary center, or if needed, the baby should have been referred much earlier. The uniqueness of this case is the presence of supernumerary teeth.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>A complicated, difficult to remedy case, referred to tertiary center, investigated, and sent back home with no significant intervention. Genetic test confirmed the typical findings of Pfieffer Type II. Presented for describing additional unique features of supernumerary teeth and localized gigantism and ethical challenges in management.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-022-03586-2","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T01:23:47Z","timestamp":1667265827000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7069-6408","authenticated-orcid":false,"given":"Karim P.","family":"Manji","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam Mngoya","family":"Massomo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edna Samson","family":"Akyoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"McLean Abisai","family":"Luvinga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,11,1]]},"reference":[{"issue":"5","key":"3586_CR1","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1007\/s004390050413","volume":"99","author":"M Tartaglia","year":"1997","unstructured":"Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet. 1997;99(5):602\u20136. https:\/\/doi.org\/10.1007\/s004390050413.","journal-title":"Hum Genet"},{"issue":"3","key":"3586_CR2","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1046\/j.1442-200x.2001.01379.x","volume":"43","author":"H Ariga","year":"2001","unstructured":"Ariga H, Endo Y, Ujiie N, Ishii T, Ishibashi N, Fujita T, Suzuki H. Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2. Pediatr Int. 2001;43(3):293\u20135. https:\/\/doi.org\/10.1046\/j.1442-200x.2001.01379.x.","journal-title":"Pediatr Int"},{"issue":"11","key":"3586_CR3","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1002\/pd.844","volume":"24","author":"A Nazzaro","year":"2004","unstructured":"Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn. 2004;24(11):918\u201322. https:\/\/doi.org\/10.1002\/pd.844.","journal-title":"Prenat Diagn"},{"issue":"9","key":"3586_CR4","doi-asserted-by":"publisher","first-page":"1613","DOI":"10.1002\/ccr3.2959.PMID:32983461;PMCID:PMC7495869","volume":"8","author":"I Amiji","year":"2020","unstructured":"Amiji I, Kalezi ZE, Abdulshakoor A, Tarimo JF, Leiya R, Zuechner A, Naburi HE, Massawe A, Manji KP. Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital Tanzania. Clin Case Rep. 2020;8(9):1613\u20137. https:\/\/doi.org\/10.1002\/ccr3.2959.PMID:32983461;PMCID:PMC7495869.","journal-title":"Clin Case Rep."},{"issue":"2","key":"3586_CR5","doi-asserted-by":"publisher","first-page":"261","DOI":"10.4103\/1119-3077.187332","volume":"20","author":"GS Torun","year":"2017","unstructured":"Torun GS, Akbulut A. Crouzon syndrome with multiple supernumerary teeth. Niger J Clin Pract. 2017;20(2):261\u20133. https:\/\/doi.org\/10.4103\/1119-3077.187332.","journal-title":"Niger J Clin Pract"},{"issue":"6","key":"3586_CR6","doi-asserted-by":"publisher","first-page":"762","DOI":"10.15537\/smj.2015.6.11344","volume":"36","author":"M Faizan","year":"2015","unstructured":"Faizan M, Ahmed S, Khalid S, Zahid M. Localized gigantism. Saudi Med J. 2015;36(6):762\u20133.","journal-title":"Saudi Med J"},{"issue":"6","key":"3586_CR7","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1097\/SCS.0000000000002016","volume":"26","author":"Mathijssen IM and Working Group on Craniosynostosis","year":"2015","unstructured":"Mathijssen IM and Working Group on Craniosynostosis. Pfeiffer syndrome, another craniosynostosis, is also epitomized by short, broad big toes and thumbs in contrast to the previously mentioned normal digits of those with Crouzon syndrome. Guideline for Care of Patients with the Diagnoses of Craniosynostosis. J Craniofac Surg. 2015;26(6):1735\u2013807.","journal-title":"J Craniofac Surg."},{"issue":"8","key":"3586_CR8","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1002\/pd.960","volume":"24","author":"B Blaumeiser","year":"2004","unstructured":"Blaumeiser B, Loquet P, Wuyts W, N\u00f6then MM. Prenatal diagnosis of Pfeiffer syndrome type. Prenat Diagn. 2004;24(8):644\u20136. https:\/\/doi.org\/10.1002\/pd.960.","journal-title":"Prenat Diagn"},{"key":"3586_CR9","unstructured":"Centogene GmbH . The rare disease company. Am Strande 7, 18055 Rostock, Germany www.centogene.com. Accessed 25 May 2022."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-022-03586-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-022-03586-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-022-03586-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T01:24:42Z","timestamp":1667265882000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-022-03586-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,1]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["3586"],"URL":"https:\/\/doi.org\/10.1186\/s13256-022-03586-2","relation":{},"ISSN":["1752-1947"],"issn-type":[{"type":"electronic","value":"1752-1947"}],"subject":[],"published":{"date-parts":[[2022,11,1]]},"assertion":[{"value":"18 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 November 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The mother consented for the pictures for educational purposes. Anonymization: The name, the dates and the region from which the neonate was referred from have not been mentioned, for anonymization.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient's legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"No competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"399"}}