Acromicric dysplasia and hearing loss: A case report

Authors

  • Ana Nóbrega Pinto Department of Otorhinolaryngology and Cervical-Facial Surgery, Centro Hospitalar do Porto
  • Miguel Bebiano Coutinho Department of Otorhinolaryngology and Cervical-Facial Surgery, Centro Hospitalar do Porto
  • Teresa Soares Department of Otorhinolaryngology and Cervical-Facial Surgery, Centro Hospitalar do Porto
  • Cecília Almeida Sousa Department of Otorhinolaryngology and Cervical-Facial Surgery, Centro Hospitalar do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v27.i3.13190

Keywords:

Bone dysplasias, hearing loss, hearing impairment rehabilitation

Abstract

Introduction: Acromicric dysplasia is an extremely rare autosomal dominant bone dysplasia characterized by progressive growth retardation, short hands and feet, mild facial dysmorphism and generalized joint limitation. Association with ear, nose and pharyngolaryngeal alterations has been previously reported. However, little is known about the otolaryngologic aspects that may accompany this disease. We pretend to raise awareness to the otolaryngologic aspects that may accompany acromicric dysplasia and to the possible interventions that improve these patients quality of life.
Clinical Case: We present the case of a ten-year-old girl referred to the otorhinolaryngology consultation with complaints of progressive hearing loss. Hearing evaluation confirmed bilateral severe mixed hearing loss and the patient was successfully rehabilitated with bone-anchored hearing aids.
Discussion/Conclusions: Evaluation by an otolaryngologist should be part of the management of children with bone dysplasias, especially if they present with associated symptoms, to allow an early diagnosis and proper intervention.

Downloads

Download data is not yet available.

References

Maroteaux P, Stanescu R, Stanescu V, Rappaport R. Acromicric dysplasia. Am J Med Genet 1986;24:447-9

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, et al. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011;89:7–14.

Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V. 2014. Orthopedics management of acromicric dysplasia: follow up of nine patients. Am J Med Genet Part A 164A:331–337.

Faivre L, Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001;38:745–749

Hasegawa K, Numakura C, Tanaka H, Furujo M, Kubo T, Higuchi Y, Yamashita M, Tsukahara H. Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):117-121. doi: 10.1515/jpem-2016-0258

Teunissen EB, Cremers WR. (1993). Classification of congenital middle ear anomalies. Report on 144 ears. Ann Oto Rhinol Laryngol. 1002(8Pt1)606-12.

Downloads

Published

2018-10-17

How to Cite

1.
Pinto AN, Coutinho MB, Soares T, Sousa CA. Acromicric dysplasia and hearing loss: A case report. REVNEC [Internet]. 2018Oct.17 [cited 2024Mar.28];27(3):185-7. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/13190

Issue

Section

Case Reports

Most read articles by the same author(s)