Apert syndrome without craniosynostosis

  • Diego de Ângelis RamosEmail author
  • Hamilton Matushita
  • Daniel Dante Cardeal
  • Clarissa Nóbrega Gambarra Nascimento
  • Manoel Jacobsen Teixeira
Case Report



Apert syndrome is a rare form of syndromic craniosynostosis, also known as acrocephalosyndactyly, which is a disorder characterized by a unique set of craniofacial, hand, and foot abnormalities. Diagnosis is made through a genetic analysis, where the mutation of FGFR2, Ser252Trp, and Pro253Arg confirms the diagnosis.

Case presentation

Although craniosynostosis is the most common characteristic in clinical presentation, we present an atypical case of a one-and-a-half-year-old girl with Apert syndrome confirmed by genetic testing but without craniosynostosis.


Apert syndrome Craniosynostosis Fibroblast growth factor receptors (FGFR)2 Atypical case 


Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.


  1. 1.
    Lee DS, Chung KC (2010) Eugene Apert and his contributions to plastic surgery. Ann Plast Surg 64(3):362–365CrossRefGoogle Scholar
  2. 2.
    Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M et al (1999) Clinical variability in patients with Apert’s syndrome. J Neurosurg 90(3):443–447CrossRefGoogle Scholar
  3. 3.
    Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD et al (1992) Birth prevalence study of the Apert syndrome. Am J Med Genet 42(5):655–659CrossRefGoogle Scholar
  4. 4.
    Moloney DM, Slaney SR, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AOM (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 13(1):48–53CrossRefGoogle Scholar
  5. 5.
    Renier D, Lajeunie E, Arnaud E, Marchac D (2000) Management of craniosynostoses. Childs Nerv Syst 16(10–11):645–658CrossRefGoogle Scholar
  6. 6.
    Wilkie AO, Johnson D, Wall SA (2017) Clinical genetics of craniosynostosis. Curr Opin Pediatr 29(6):622–628CrossRefGoogle Scholar
  7. 7.
    Avantaggiato A, Carinci F, Curioni C (1996) Apert’s syndrome: cephalometric evaluation and considerations on pathogenesis. J Craniofac Surg 7(1):23–31CrossRefGoogle Scholar
  8. 8.
    Cohen MM Jr, Kreiborg S (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35(1):36–45CrossRefGoogle Scholar
  9. 9.
    Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 10(3):357–359CrossRefGoogle Scholar
  10. 10.
    Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J-M, Maroteaux P, Merrer ML, Munnich A (1994) Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia. Nature 371(6494):252–254CrossRefGoogle Scholar
  11. 11.
    Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78(2):335–342CrossRefGoogle Scholar
  12. 12.
    Orr-Urtreger A, Givol D, Yayon A, Yarden Y, Lonai P (1991) Developmental expression of two murine fibroblast growth factor receptors, flg and bek. Development 113(4):1419–1434Google Scholar
  13. 13.
    Coomaralingam S, Roth P (2012) Apert syndrome in a newborn infant without craniosynostosis. J Craniofac Surg 23(3):e209–ee11CrossRefGoogle Scholar
  14. 14.
    Connolly JP, Gruss J, Seto ML, Whelan MF, Ellenbogen R, Weiss A, Buchman SR, Cunningham ML (2004) Progressive postnatal craniosynostosis and increased intracranial pressure. Plast Reconstr Surg 113(5):1313–1323CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Hospital das Clínicas, School of MedicineUniversity of São PauloPinheirosBrazil

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