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Case Report

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

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Pages 147-150 | Published online: 11 Aug 2020

References

  • Pfeiffer. Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd. 1964;90(301):20.
  • Giancotti A, D’Ambrosio V, Marchionni E, et al. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Neonatal Med. 2017;30(18):2225–2231. doi:10.1080/14767058.2016.1243099
  • Machado RA, Ferreira SB, Martins L, et al. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome. Am J Med Genet Part A. 2017;173(10):2838–2843. doi:10.1002/ajmg.a.38389
  • 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(3):245–251. doi:10.1002/(SICI)1096-8628(19980123)75:3<245::AID-AJMG3>3.0.CO;2-P
  • Kalathia MB, Parikh YN, Dhami MD, Hapani PT. Pfeiffer syndrome. J Pediatr Neurosci. 2014;9(1):85–86. doi:10.4103/1817-1745.131499
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
  • Saliba S, Morel B, Gonzales M, et al. Variable prenatal presentation of Pfeiffer syndrome: suggested aids to prenatal sonographic diagnosis. Prenat Diagn. 2018;38(5):349–356. doi:10.1002/pd.5231
  • Teebi AS, Kennedy S, Chun K, Ray PN. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet. 2002;107(1):43–47. doi:10.1002/ajmg.10125
  • Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999;104(5):425–431. doi:10.1007/s004390050979
  • Bessenyei B, Nagy A, Szakszon K, et al. Clinical and genetic characteristics of craniosynostosis in Hungary. Am J Med Genet Part A. 2015;167(12):2985–2991. doi:10.1002/ajmg.a.37298
  • Hibberd CE, Bowdin S, Arudchelvan Y, et al. FGFR-associated craniosynostosis syndromes and gastrointestinal defects. Am J Med Genet Part A. 2016;170(12):3215–3221. doi:10.1002/ajmg.a.37862
  • Chun K, Teebi AS, Azimi C, Steele L, Ray PN. Screening of patients with craniosynostosis: molecular strategy. Am J Med Genet. 2003;120A(4):470–473. doi:10.1002/ajmg.a.20258
  • Nykamp K, Anderson M, Powers M, et al. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Genet Med. 2017;19(10):1105–1117. doi:10.1038/gim.2017.37
  • Delahaye S, Bernard JP, Rénier D, Ville Y. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol. 2003;21(4):347–353. doi:10.1002/uog.91
  • Gómez-Gómez JL, Fernández-Alonso AM, Moreno-Ortega I, Mas-Greño L, Berenguel-Martínez J, Fiol-Ruiz G. Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation. J Obstet Gynaecol (Lahore). 2013;33(3):309. doi:10.3109/01443615.2012.753424
  • Zhang J, Li J, Saucier JB, et al. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019;25(3):439–447. doi:10.1038/s41591-018-0334-x
  • Ko JM. Genetic syndromes associated with craniosynostosis. J Korean Neurosurg Soc. 2016;59(3):187–191. doi:10.3340/jkns.2016.59.3.187