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16 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Cardiomyopathy

  • Usher Syndrome Type 1K

    The fundoscopic finding of both eyes showed typical pigmentary degeneration with multiple bone spicule pigmentations in over the entire retina, attenuated retinal vessels,[mafiadoc.com] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org]

  • Alstrom Syndrome

    The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of peripheral and midperipheral fundus, coarser pigmentary changes with a "bone-spicule" configuration[ncbi.nlm.nih.gov] Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org] Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[ncbi.nlm.nih.gov]

  • Refsum Disease

    Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org] An autosomal recessive familial disorder that usually presents in childhood with polyneuropathy; sensorineural hearing loss; ichthyosis; ataxia; retinitis pigmentosa; and cardiomyopathies[icd9data.com] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov]

  • Retinitis pigmentosa 40

    Symptoms - Retinitis pigmentosa Mottling of the retinal pigment epithelium with black bone-spicule pigmentation is typically indicative (or pathognomonic) of retinitis pigmentosa[checkorphan.org] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Laurence-Moon Syndrome or Bardet-Biedl Syndrome; obese, deaf, hypogonadism, dwarfism, renal failure and hepatic fibrosis, diabetes, low IQ, polydactyly/syndactyly, dilated cardiomyopathy[medicaleducationleeds.com]

  • Retinitis Pigmentosa 23

    Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] […] hypertrophic cardiomyopathy 4 Familial hypertrophic cardiomyopathy 7 Fanconi anemia, complementation group C Fanconi anemia, complementation group D1 Frontotemporal dementia[enlis.com]

  • Suppurative Labyrinthitis

    In turn, at the labyrinthitis ossificans stage, where debris and boney spicules are formed, the temporal bone CT scan ( Fig. 5 ) is the best test to identify lesion extent[bjorl.org] Patients with recurrent meningitis and congenital malformations of the inner ear may undergo vestibule obliteration. 14 All patients acquiring bilateral severe-to-profound[entokey.com] Common aetiologies include arrhythmias, cardiomyopathy, hypovolaemia or orthostatic hypotension. 3 Disequilibrium is a sense of being off-balance without dizziness or vertigo[bpac.org.nz]

  • Schneckenbecken Dysplasia

    […] overgrew the cartilage, producing spicules.[documents.tips] Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu] Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org]

  • Cataract - Ataxia - Deafness

    Bone-spicule-shaped pigment clumping may be present in the midperiphery while the optic disk is often pale and the retinal vessels are attenuated.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] Urinary System Disorders 189 Genetic Conditions in Cats 199 Hemophilia Hyperoxaluria Hypertrophic Cardiomyopathy 203 BreedRelated Health Problems 221 91 228 98 235 165 238[books.google.com]

  • Usher Syndrome 3A

    These include pigment dispersion, which means that some parts appear lighter than others, followed by "bone spicules" which are little jagged spots.[boystownhospital.org] ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants.[clinicalgenome.org] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com]

  • Ocular Albinism with Congenital Sensorineural Deafness

    Bone spicule formation. d. Choroidal folds. 2. What is the likely diagnosis? a. Retinitis pigmentosa. b. Congenital rubella retinopathy. c. Syphilis retinopathy. d.[reviewofoptometry.com] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.[mendelian.co] Echocardiography was demonstrated hypertrophic cardiomyopathy. Odiological examination showed deafness on the left ears.[adc.bmj.com]

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