Acromicric dysplasia and hearing loss: A case report

Pinto, Ana Nóbrega; Coutinho, Miguel Bebiano; Soares, Teresa; Sousa, Cecília Almeida

http://hdl.handle.net/10400.16/3799

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Authors

Pinto, Ana Nóbrega

Coutinho, Miguel Bebiano

Soares, Teresa

Sousa, Cecília Almeida

Abstract(s)

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

Keywords

Bone dysplasias hearing loss hearing impairment rehabilitation

URI

http://hdl.handle.net/10400.16/3799

Citation

Pinto AN, Coutinho MB, Soares T, Sousa CA. Acromicric dysplasia and hearing loss: A case report. BGMJ [Internet]. 2018 Oct. 17 [cited 2025 Nov. 14];27(3):185-7. Available from: https://revistas.rcaap.pt/bgmj/article/view/13190