Apert Syndrome: A Case Report

Document Type : Case Report

Authors

1 Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran

2 Student Research Committee, North Khorasan University of Medical Sciences, Bojnurd, Iran

Abstract

Background: Primary craniosynostosis is a form of premature fusion of the cranial sutures, which commonly occurs prenatally. The condition appears in both syndromic and nonsyndromic forms.
Case report: The cause of most cases of primary craniosynostosis are unknown, with genetic syndromes explaining 10%–20% of cases. The most prevalent syndromes associated with primary craniosynostosis are Crouzon, Apert, and Pfeiffer. Scaphocephaly is the most typical form of craniosynostosis that occurs due to premature closure of the sagittal suture. Frontal plagiocephaly is another form of this condition that is caused by the premature fusion of a sphenofrontal or coronal suture. The suture line palpation at birth usually exhibits a bony ridge. In these case, head CT or skull radiograph may be prescribed. Some genetic types of craniosynostosis are triggered by FGFR1, TWIST, FGFR2, or FGFR3 mutations.
Conclusion: A rare congenital condition, Apert syndrome is associated with craniosynostosis and severe symmetrical syndactyly of the feet and hands. In this case study, the goal has been to present a newborn with all characteristics of a classical Apert syndrome.
 
 

Keywords

References

  1. Esmaeili M, Esmaeili M, Saeidi R, Ghane Sharbaf F. Head circumference in Iranian infants. Iran J Neonatol. 2015;6(1):28-32.
  2. Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci. 2017;13(12):1479-88.
  3. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9(2):165-72.
  4. Goriely A, McVean GA, Rojmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301(5633):643-6.
  5. Anderson J, (School of Biochemistry, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK), Burns HD, Enriquez-Harris P, Wilkie AO, Heath JK. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum Mol Genet. 1998;7(9):1475–1483.
  6. Cohen MM Jr, (Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada), Kreiborg S. Skeletal abnormalities in the Apert syndrome. Am J Med Genet. 1993;47(5):624–632.
  7. Upton J. Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg. 1991;18(2):321-55.
  8. Andreou A, Lamy A, Layet V, Cailliez D, Gobet F, Pfister C, et al. Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). Am J Med Genet A. 2006;140(20):2245-7.
  9. Bissacotti Steglich EM, Steglich RB, Melo MM, de Almeida HL, Jr. Extensive acne in Apert syndrome. Int J Dermatol. 2016;55(11):e596-e8.
  10. Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, et al. FGFR-associated craniosynostosis syndromes and gastrointestinal defects. Am J Med Genet. 2016;170(12):3215-21.
  11. Tan AP, Mankad K. Apert syndrome. magnetic resonance imaging (MRI) of associated intracranial anomalies. Childs Nerv Syst. 2018;34(2):205-16.
  12. Cohen MM, Jr., Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet. 1993;
    45(6):758-60.
  13. Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, et al. Rare mutations of FGFR2 causing apert syndrome. identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat. 2009;
    30(2):204-11.
  14. Goriely A, McVean GAT, Röjmyr M, Ingemarsson B, Wilkie AOM. Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line. Science. 2003;301(5633):643-6.
  15. Fearon JA. Treatment of the Hands and Feet in Apert Syndrome. An Evolution in Management. Plast Reconstr Surg. 2003;112(1):1-12.
  16. Ibrahimi OA, (Department of Pharmacology and the Institute of Reconstructive Plastic Surgery, New York University School of Medicine, New York, NY 10016, USA), Chiu ES, McCarthy JG, Mohammadi M. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg. 2005;115(1):264–270.
  17. Saeidi R , Abasi A . The neonate was born with holoprosencephaly. Iran J Neonatol. 2014;5(3):32-35.

 

Iranian Journal of Neonatology
Volume 13, Issue 1
January 2022
Pages 71-73

Files

Share

How to cite

Statistics