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11 Possible Causes for Audiometry Abnormal, Sensorineural Hearing Loss May Be Presenting Feature

  • Congenital Deafness

    Features may range from those with classical Pendred syndrome presenting with goitre and prelingual profound sensorineural hearing loss, to those with absence of goitre, normal[bmb.oxfordjournals.org] More recently, it has become apparent that the clinical presentation of individuals with mutations in this gene is highly variable.[bmb.oxfordjournals.org]

  • Otosclerosis

    hearing loss.[ncbi.nlm.nih.gov] Investigations Audiometry is the primary investigation of choice.[patient.info] Recognition of these MRI features is important as MRI may be the first modality of investigation, especially when patients present with symptoms indicative of sensorineural[ncbi.nlm.nih.gov]

  • Susac Syndrome

    […] to retinal branch occlusions, and sensorineural hearing loss.[ncbi.nlm.nih.gov] Fluorescein angiography was abnormal in 7 cases. Tonal audiometry revealed unilateral hypoacusia in 5 patients, 3 with low frequency hearing loss.[ncbi.nlm.nih.gov] Audiometry showed sensorineural hearing loss in both ears.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Deafness 64

    Features may range from those with classical Pendred syndrome presenting with goitre and prelingual profound sensorineural hearing loss, to those with absence of goitre, normal[academic.oup.com] Clinical Manifestations Hearing loss is described by type and onset : Type Conductive hearing loss results from abnormalities of the external ear and/or the ossicles of the[consilieregenetica.org] More recently, it has become apparent that the clinical presentation of individuals with mutations in this gene is highly variable.[academic.oup.com]

  • Alstrom Syndrome

    […] in infancy or adolescence. 3 , 5 Other features that may present are short stature, bladder instability, chronic renal and hepatic dysfunction, early-onset type 2 diabetes[pediatrics.aappublications.org] Cochlear function at age 6 was tested, and was abnormal.[bjorl.org] Discussion The diagnosis of Alström syndrome must be considered in children with retinal dystrophy, sensorineural hearing loss, insulin resistance and obesity, and cardiomyopathy[pediatrics.aappublications.org]

  • Autosomal Dominant Mental Retardation Type 21

    The ears can be low-set and malformed and sensorineural hearing loss is often present. Facial palsy has been reported.[disorders.eyes.arizona.edu] Audiometric assessment can include behavioural audiometry or brainstem auditory evoked response testing when feasible.[intechopen.com] Colobomas and congenital cataracts may be seen. Systemic Features: Esophageal atresia and sometimes tracheoesophageal fistula sometimes coexist.[disorders.eyes.arizona.edu]

  • Conductive Deafness - Malformed External Ear Syndrome

    All types have progressive vision loss. Waardenburg Hearing loss may be present in one or both ears and is a sensorineural type of loss.[rchsd.org] Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy.[jhu.pure.elsevier.com] Pendred Hearing loss may be mixed or sensorineural and may be progressive. Abnormal inner ear anatomy and thyroid enlargement can also be present.[rchsd.org]

  • Deafness-Epiphyseal Dysplasia-Short Stature Syndrome

    Systemic Features: Sensorineural hearing loss and short stature are often present. The latter is not usually a feature in other types of Stickler syndrome.[disorders.eyes.arizona.edu] His eyes examination and audiometry showed no abnormality. He was given a clinical diagnosis of SEDC. Fig. 1 Pedigree of the index family.[bmcmedgenet.biomedcentral.com] However, midface hypoplasia and micrognathia may be present in all types as well as in Marshall syndrome. Midline clefting usually does not occur.[disorders.eyes.arizona.edu]

  • Autosomal Dominant Classic Optic Atrophy

    Twenty per cent develop sensorineural hearing loss; other features are less common. 22. Behr syndrome Inheritance is AR; heterozygotes may have mild features.[slideshare.net] Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.medscape.com] Presentation is in early childhood with reduced vision. Optic atrophy is diffuse. Prognosis is variable, with moderate to severe visual loss and nystagmus.[slideshare.net]

  • Unilateral Hearing Loss

    The patient with an acoustic neuroma may present to the otologist with a variety of clinical features.[ncbi.nlm.nih.gov] Initial pure-tone audiometry demonstrated a normal hearing threshold for the left ear (pure tone average 15dB HL) and severe hearing loss on the right (pure tone average 85[acnr.co.uk] Classically these include a retrocochlear pattern of sensorineural hearing loss, reduced vestibular response on caloric testing and a pathological auditory brainstem response[ncbi.nlm.nih.gov]

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