References
- Pfeiffer R. Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd 1964;90:301–20
- Cohen MM Jr., Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45:300–7
- Muenke M, Schell U, Hehr A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269–74
- Schell U, Hehr A, Feldman GJ, et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 1995;4:323–8
- Katzen JT, McCarthy JG. Syndromes involving craniosynostosis and midface hypoplasia. Otolaryngol Clin North Am 2000;33:1257–84
- Bellus GA, Gaudenz K, Zackai EH, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996;14:174–6
- Delahaye S, Bernard JP, Rénier D, et al. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol 2003;21:347–53
- Gómez-Gómez JL, Fernández-Alonso AM, Moreno-Ortega I, et al. Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation. J Obstet Gynaecol 2013;33:309–10
- Nazzaro A, Della Monica M, Lonardo F, et al. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn 2004;24:918–22
- Rubio EI, Blask A, Bulas DI. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. Pediatr Radiol 2016;46:709–18
- Benacerraf BR, Spiro R, Mitchell AG. Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. Ultrasound Obstet Gynecol 2000;16:391–4
- Gorincour G, Rypens F, Grignon A, et al. Prenatal diagnosis of cloverleaf skull: watch the hands!. Fetal Diagn Ther 2005;20:296–300
- Blaumeiser B, Loquet P, Wuyts W, et al. Prenatal diagnosis of Pfeiffer syndrome type II. Prenat Diagn 2004;24:644–6
- Medina M, Cortés E, Eguiluz I, et al. Three-dimensional features of Pfeiffer syndrome. Int J Gynaecol Obstet 2009;105:266–7
- Gonzales M, Heuertz S, Martinovic J, et al. Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. Clin Genet 2005;68:179–81
- Bernstein PS, Gross SJ, Cohen DJ, et al. Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound Obstet Gynecol 1996;8:425–8
- Nieuwenhuyzen-De Boer GM, Hoogeboom AJ, Smit LS, et al. Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol 2014;181:339–40
- Plomp AS, Hamel BC, Cobben JM, et al. Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet 1998;75:245–51
- Glaser RL, Jiang W, Boyadjiev SA, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000;66:768–77
- Khonsari RH, Delezoide AL, Kang W, et al. Central nervous system malformations and deformations in FGFR2-related craniosynostosis. Am J Med Genet a 2012;158A:2797–806
- Ariga H, Endo Y, Ujiie N, et al. Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2. Pediatr Int 2001;43:293–5
- Tartaglia M, Valeri S, Velardi F, et al. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet 1997;99:602–6
- Schaefer F, Anderson C, Can B, et al. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet 1998;75:252–5
- Oliveira NA, Alonso LG, Fanganiello RD, et al. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res Part A Clin Mol Teratol 2006;76:629–33
- Lajeunie E, Heuertz S, El Ghouzzi V, et al. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 2006;14:289–98
- Baynam G, Smith N, Goldblatt J. A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. Am J Med Genet a 2008;146A:2301–3
- Hill LM, Grzybek PC. Sonographic findings with Pfeiffer syndrome. Prenat Diagn 1994;14:47–9
- Martinelli P, Paladini D, D'Armiento M, Scarano G. Prenatal diagnosis of cloverleaf skull in the subtype 2 Pfeiffer syndrome. Clin Dysmorphol 1997;6:89–90
- Pallagatti P, Sankaran S, Kollipara P. A rare case of Pfeiffer's syndrome. J Obstet Gynaecol 2008;28:448–9