J Pediatr Genet 2021; 10(01): 070-073
DOI: 10.1055/s-0040-1708052
Case Report

Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Veronica Arora
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Renu Saxena
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Ratna Dua Puri
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Ishwar Chander Verma
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
› Author Affiliations

Abstract

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.



Publication History

Received: 06 December 2019

Accepted: 07 February 2020

Article published online:
09 March 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
  • References

  • 1 Korver AM, Smith RJ, Van Camp G. et al. Congenital hearing loss. Nat Rev Dis Primers 2017; 3: 16094
  • 2 Angeli S, Lin X, Liu XZ. Genetics of hearing and deafness. Anat Rec (Hoboken) 2012; 295 (11) 1812-1829
  • 3 Rudman J, Zhong XL. Genetics of hearing loss. Hear J 2019; 72 (04) 6
  • 4 Ozgen B, Oguz KK, Atas A, Sennaroglu L. Complete labyrinthine aplasia: clinical and radiologic findings with review of the literature. AJNR Am J Neuroradiol 2009; 30 (04) 774-780
  • 5 Online Mendelian Inheritance in Man. OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {610706}: {10/05/2016}. Accessed February 2, 2020 at: https://omim.org/
  • 6 Singh A, Tekin M, Falcone M, Kapoor S. Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Indian Pediatr 2014; 51 (11) 919-920
  • 7 Richards S, Aziz N, Bale S. et al; ACMG Laboratory Quality Assurance Committee. 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. Genet Med 2015; 17 (05) 405-424
  • 8 Jorgensen MB, Kristensen HK, Buch NH. Thalidomide induced aplasia of the inner ear. J Laryngol Otol 1964; 78: 1095-1101
  • 9 Daneshi A, Farhadi M, Asghari A, Emamjomeh H, Abbasalipour P, Hasanzadeh S. Three familial cases of Michel's aplasia. Otol Neurotol 2002; 23 (03) 346-348
  • 10 Tekin M, Hişmi BO, Fitoz S. et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet 2007; 80 (02) 338-344
  • 11 Sensi A, Ceruti S, Trevisi P. et al. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet A 2011; 155A (05) 1096-1101
  • 12 Alsmadi O, Meyer BF, Alkuraya F. et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet 2009; 17 (01) 14-21