{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,11,13]],"date-time":"2022-11-13T14:30:46Z","timestamp":1668349846752},"reference-count":10,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T00:00:00Z","timestamp":1629331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Plast Surg"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2019s method identified a heterozygous missense mutation; FGFR2c.758C&gt;G (FGFR2p.P253R) in the exon-7 of the gene.<\/jats:p>","DOI":"10.1055\/s-0041-1733808","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T23:06:22Z","timestamp":1629414382000},"page":"370-372","source":"Crossref","is-referenced-by-count":1,"title":["Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation"],"prefix":"10.1055","volume":"54","author":[{"given":"Chandra Bhan","family":"Singh","sequence":"additional","affiliation":[{"name":"Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biswajit","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery, MKCG. Medical College and Hospital, Berhampur, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashmi","family":"Patel","sequence":"additional","affiliation":[{"name":"Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashok","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, SS Hospital, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhtar","family":"Ali","sequence":"additional","affiliation":[{"name":"Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,8,19]]},"reference":[{"key":"ref1","first-page":"238","article-title":"Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes","volume":"45","author":"S W Wheaton","year":"1894","journal-title":"Trans Pathol Soc London"},{"key":"ref2","first-page":"1310","article-title":"De I\u2019acroc\u00e9phalosyndactylie","volume":"23","author":"M E Apert","year":"1906","journal-title":"Bull MemSoc Med H\u00f4p"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1186\/s13256-019-2173-x","article-title":"Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report","volume":"13","author":"G S Brajadenta","year":"2019","journal-title":"J Med Case Reports"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.jobcr.2016.07.002","article-title":"Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: an Indian case report","volume":"7","author":"F Kunwar","year":"2017","journal-title":"J Oral BiolCraniofac Res"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1086\/338758","article-title":"Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromiccraniosynostosis","volume":"70","author":"S H Kan","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"48","DOI":"10.4103\/0971-6866.86171","article-title":"Craniosynostosis genetics: the mystery unfolds","volume":"17","author":"I Panigrahi","year":"2011","journal-title":"Indian J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1126\/science.1206923","article-title":"Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1","volume":"333","author":"N Agrawal","year":"2011","journal-title":"Science"},{"issue":"16","key":"ref8","doi-asserted-by":"crossref","first-page":"5195","DOI":"10.1158\/0008-5472.CAN-12-3950","article-title":"Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma","volume":"73","author":"R G Liao","year":"2013","journal-title":"Cancer Res"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/hmg\/6.1.137","article-title":"Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2","volume":"6","author":"M Oldridge","year":"1997","journal-title":"Hum Mol Genet"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1086\/302245","article-title":"De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome","volume":"64","author":"M Oldridge","year":"1999","journal-title":"Am J Hum Genet"}],"container-title":["Indian Journal of Plastic Surgery"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1733808.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T22:44:00Z","timestamp":1634165040000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1733808"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,19]]},"references-count":10,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2021,10,13]]},"published-print":{"date-parts":[[2021,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1733808","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0970-0358","1998-376X"],"issn-type":[{"value":"0970-0358","type":"print"},{"value":"1998-376X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,19]]}}}