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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 2
1971 1
1972 1
1973 1
1974 1
1975 1
1977 1
1979 1
1981 3
1982 1
1983 1
1985 4
1987 2
1988 3
1990 5
1991 13
1992 2
1993 9
1994 3
1995 7
1996 8
1997 12
1998 8
1999 3
2000 8
2001 7
2002 7
2003 1
2004 6
2005 6
2006 3
2007 6
2008 10
2009 4
2010 6
2011 5
2012 7
2013 8
2014 12
2015 3
2016 7
2017 6
2018 9
2019 7
2020 4
2021 12
2022 12
2023 4

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238 results

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Page 1
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM. Sawh-Martinez R, et al. Clin Plast Surg. 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. Clin Plast Surg. 2019. PMID: 30851747 Review.
The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Saethre-Chotzen (TWIST). Bicoronal craniosynostosis (turribrachycephaly) is most commonly associated with syndromic craniosynostosis. ...
The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Sa …
Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
Rai R, Iwanaga J, Dupont G, Oskouian RJ, Loukas M, Oakes WJ, Tubbs RS. Rai R, et al. Childs Nerv Syst. 2019 Sep;35(9):1451-1455. doi: 10.1007/s00381-019-04244-7. Epub 2019 Jun 21. Childs Nerv Syst. 2019. PMID: 31222448 Review.
INTRODUCTION: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. ...METHODS: This review will specifically examine the most severe type, Pfeiffer syndrome
INTRODUCTION: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hy …
Syndromic Craniosynostosis.
Wang JC, Nagy L, Demke JC. Wang JC, et al. Facial Plast Surg Clin North Am. 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. Facial Plast Surg Clin North Am. 2016. PMID: 27712819 Review.
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr. Buchanan EP, et al. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. Plast Reconstr Surg. 2014. PMID: 25028828 Review.
Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. SUMMARY: Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated with clefts. ...The mo …
Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. SUMMAR …
Pfeiffer syndrome.
Vogels A, Fryns JP. Vogels A, et al. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. Orphanet J Rare Dis. 2006. PMID: 16740155 Free PMC article. Review.
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylo
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumb
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC, Reddy S, Shukla V, Deng CX. Azoury SC, et al. Int J Biol Sci. 2017 Nov 2;13(12):1479-1488. doi: 10.7150/ijbs.22373. eCollection 2017. Int J Biol Sci. 2017. PMID: 29230096 Free PMC article. Review.
The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and …
The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostoti …
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
Giancotti A, D'Ambrosio V, Marchionni E, Squarcella A, Aliberti C, La Torre R, Manganaro L, Pizzuti A; PECRAM Study Group*. Giancotti A, et al. J Matern Fetal Neonatal Med. 2017 Sep;30(18):2225-2231. doi: 10.1080/14767058.2016.1243099. Epub 2016 Oct 20. J Matern Fetal Neonatal Med. 2017. PMID: 27762162 Review.
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. ...
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. ...
Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.
Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK. Abulezz TA, et al. Ann Plast Surg. 2020 Sep;85(3):251-255. doi: 10.1097/SAP.0000000000002391. Ann Plast Surg. 2020. PMID: 32487807 Review.
INTRODUCTION: Saethre-Chotzen syndrome is a genetic condition characterized by craniofacial and limb anomalies, with craniosynostosis (mainly coronal) being the most frequent craniofacial finding. ...METHODS: A retrospective review was performed on records of patients give …
INTRODUCTION: Saethre-Chotzen syndrome is a genetic condition characterized by craniofacial and limb anomalies, with craniosynostosis …
[Craniosynostosis and strabismus].
Wang AK, Kang XL. Wang AK, et al. Zhonghua Yan Ke Za Zhi. 2016 Aug;52(8):626-30. doi: 10.3760/cma.j.issn.0412-4081.2016.08.018. Zhonghua Yan Ke Za Zhi. 2016. PMID: 27562283 Review. Chinese.
Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which c …
Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified i …
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated rec …
By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathw …
238 results