Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation
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...
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| Format: | Article |
| Language: | English |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2021-08-01
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| Series: | Indian Journal of Plastic Surgery |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1733808 |
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| author | Chandra Bhan Singh Biswajit Mishra Rashmi Patel Ashok Kumar Akhtar Ali |
| author_facet | Chandra Bhan Singh Biswajit Mishra Rashmi Patel Ashok Kumar Akhtar Ali |
| author_sort | Chandra Bhan Singh |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-80840a4e76a84e56999840ee93fc9ee0 |
| institution | Kabale University |
| issn | 0970-0358 1998-376X |
| language | English |
| publishDate | 2021-08-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Plastic Surgery |
| spelling | doaj-art-80840a4e76a84e56999840ee93fc9ee02025-08-20T03:35:14ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Plastic Surgery0970-03581998-376X2021-08-01540337037210.1055/s-0041-1733808Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R MutationChandra Bhan Singh0Biswajit Mishra1Rashmi Patel2Ashok Kumar3Akhtar Ali4Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, IndiaDepartment of Plastic Surgery, MKCG. Medical College and Hospital, Berhampur, Odisha, IndiaCentre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, IndiaDepartment of Pediatrics, SS Hospital, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, IndiaCentre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, IndiaApert 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1733808apert syndrometripod-shaped syndactylyfgfr2758c>gpro253argindia |
| spellingShingle | Chandra Bhan Singh Biswajit Mishra Rashmi Patel Ashok Kumar Akhtar Ali Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation Indian Journal of Plastic Surgery apert syndrome tripod-shaped syndactyly fgfr2 758c>g pro253arg india |
| title | Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation |
| title_full | Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation |
| title_fullStr | Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation |
| title_full_unstemmed | Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation |
| title_short | Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation |
| title_sort | tripod shaped syndactyly in apert syndrome with fgfr2 p p253r mutation |
| topic | apert syndrome tripod-shaped syndactyly fgfr2 758c>g pro253arg india |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1733808 |
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