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CC BY-NC-ND 4.0 · Indian J Plast Surg 2021; 54(03): 370-372
DOI: 10.1055/s-0041-1733808
Case Report

Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

Chandra Bhan Singh
1   Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India
,
Biswajit Mishra
2   Department of Plastic Surgery, MKCG. Medical College and Hospital, Berhampur, Odisha, India
,
Rashmi Patel
1   Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India
,
Ashok Kumar
3   Department of Pediatrics, SS Hospital, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
,
Akhtar Ali
1   Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India
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Abstract

Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

Keywords

Apert syndrome - tripod-shaped syndactyly - FGFR2 - 758C>G - Pro253Arg - India


Publication History

Article published online:
19 August 2021

© 2021. Association of Plastic Surgeons of India. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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  • References

  • 1 Wheaton SW. Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes. Trans Pathol Soc London 1894; 45: 238
    Google Scholar
  • 2 Apert ME. De I’acrocéphalosyndactylie. Bull MemSoc Med Hôp 1906; 23: 1310-1330
    Google Scholar
  • 3 Brajadenta GS, Sari AIP, Nauphar D, Pratamawati TM, Thoreau V. Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report. J Med Case Reports 2019; 13 (01) 244
    CrossrefPubMedGoogle Scholar
  • 4 Kunwar F, Tewari S, Bakshi SR. Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: an Indian case report. J Oral BiolCraniofac Res 2017; 7 (01) 67-71
    CrossrefPubMedGoogle Scholar
  • 5 Kan SH, Elanko N, Johnson D. et al Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromiccraniosynostosis. Am J Hum Genet 2002; 70 (02) 472-486
    CrossrefPubMedGoogle Scholar
  • 6 Panigrahi I. Craniosynostosis genetics: the mystery unfolds. Indian J Hum Genet 2011; 17 (02) 48-53
    CrossrefPubMedGoogle Scholar
  • 7 Agrawal N, Frederick MJ, Pickering CR. et al Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science 2011; 333 (6046) 1154-1157
    CrossrefPubMedGoogle Scholar
  • 8 Liao RG, Jung J, Tchaicha J. et al Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma. Cancer Res 2013; 73 (16) 5195-5205
    CrossrefPubMedGoogle Scholar
  • 9 Oldridge M, Lunt PW, Zackai EH. et al Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 1997; 6 (01) 137-143
    CrossrefPubMedGoogle Scholar
  • 10 Oldridge M, Zackai EH, McDonald-McGinn DM. et al De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 1999; 64 (02) 446-461
    CrossrefPubMedGoogle Scholar