{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T20:30:09Z","timestamp":1779222609822,"version":"3.51.4"},"reference-count":11,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.<\/jats:p>","DOI":"10.1055\/s-0040-1708052","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T19:46:12Z","timestamp":1583783172000},"page":"070-073","source":"Crossref","is-referenced-by-count":3,"title":["Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3640-750X","authenticated-orcid":false,"given":"Meenakshi","family":"Lallar","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Arora","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ratna Dua","family":"Puri","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ishwar Chander","family":"Verma","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,3,9]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"16094","DOI":"10.1038\/nrdp.2016.94","article-title":"Congenital hearing loss","volume":"3","author":"A M Korver","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"11","key":"ref2","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1002\/ar.22579","article-title":"Genetics of hearing and deafness","volume":"295","author":"S Angeli","year":"2012","journal-title":"Anat Rec (Hoboken)"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1097\/01.HJ.0000557740.05282.ad","article-title":"Genetics of hearing loss","volume":"72","author":"J Rudman","year":"2019","journal-title":"Hear J"},{"issue":"04","key":"ref4","doi-asserted-by":"crossref","first-page":"774","DOI":"10.3174\/ajnr.A1426","article-title":"Complete labyrinthine aplasia: clinical and radiologic findings with review of the literature","volume":"30","author":"B Ozgen","year":"2009","journal-title":"AJNR Am J Neuroradiol"},{"issue":"11","key":"ref6","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1007\/s13312-014-0529-2","article-title":"Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome","volume":"51","author":"A Singh","year":"2014","journal-title":"Indian Pediatr"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1017\/S0022215100063234","article-title":"Thalidomide induced aplasia of the inner ear","volume":"78","author":"M B Jorgensen","year":"1964","journal-title":"J Laryngol Otol"},{"issue":"03","key":"ref9","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1097\/00129492-200205000-00020","article-title":"Three familial cases of Michel's aplasia","volume":"23","author":"A Daneshi","year":"2002","journal-title":"Otol Neurotol"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1086\/510920","article-title":"Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia","volume":"80","author":"M Tekin","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1002\/ajmg.a.33962","article-title":"LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations","volume":"155A","author":"A Sensi","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref12","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ejhg.2008.141","article-title":"Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)","volume":"17","author":"O Alsmadi","year":"2009","journal-title":"Eur J Hum Genet"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1708052.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:51Z","timestamp":1758138351000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1708052"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,9]]},"references-count":11,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,2,2]]},"published-print":{"date-parts":[[2021,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1708052","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,9]]}}}