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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 6/2020

01-06-2020 | Foot Surgery | Scientific Letter

Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation

Authors: Manisha Goyal, Ashok Gupta, Seema Kapoor, Anu Bhandari

Published in: Indian Journal of Pediatrics | Issue 6/2020

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Excerpt

To the Editor: Apert syndrome (AS) is characterized by craniosynostosis, severe symmetrical syndactyly of the hands and feet, and dysmorphic facial features (brachycephaly, midface hypoplasia, hypertelorism, proptosis and a short, broad nose with a bulbous tip) [1]. Most of the cases are sporadic and are caused by mutations in FGFR2 gene on chromosome 10q26 [2]. …
Literature
1.
Martelli H, Paranaíba LM, de Miranda RT, Orsi J, Coletta RD. Apert syndrome: report of a case with emphasis on craniofacial and genetic features. Pediatr Dent. 2008;30:464–8.PubMed
2.
Slaney SF, Oldridge M, Hurst JA, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet. 1996;58:923–32.PubMedPubMedCentral
3.
Yonenobu K, Tada K, Tsuyuguchi Y. Apert’s syndrome-a report of five cases. Hand. 1982;14:317–25.CrossRef
4.
Sidhu SS, Deshmukh R. Recessive inheritance of apparent Apert syndrome with polysyndactyly. Am J Med Genet. 1988;31:179–80.CrossRef
5.
Rynearson RD. Case report: orthodontic and dentofacial orthopedic considerations in Apert's syndrome. Angle Orthod. 2000;70:247–52.PubMed
Metadata
Title
Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation
Authors
Manisha Goyal
Ashok Gupta
Seema Kapoor
Anu Bhandari
Publication date
01-06-2020
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 6/2020
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-019-03140-x

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