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15 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Pediatric Disorder

  • Usher Syndrome Type 1

    On fluorescein angiography, both eyes showed diffuse hyperfluorescence due to pigment epithelial atrophy together with hypofluorescence, corresponding to bone spicule pigment[jamanetwork.com] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] 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]

  • 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] Pediatrics 35 : Celes-Blaubach A, Garcia-Zozaya J, Perez-Requejo J, Brass K. (1974). Vestibular disorders in Alport's syndrome.[docplayer.net]

  • Refsum Disease

    Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org] 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] Daniel Hohl and Mary Williams, Mendelian Disorders of Cornification (MEDOC): The Ichthyoses, Harper's Textbook of Pediatric Dermatology, (121.1-121.70), (2011).[doi.org]

  • Usher Syndrome Type 1D

    Color montage of the right (A) and left (B) eyes showing bone spicule pigmentary changes in the inferior periphery. The right eye is slightly worse than the left.[healio.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] If your child has a pediatric eye disorder and you have scheduled an appointment with Eileen Birch, Ph.D., please contact the Crystal Charity Ball Pediatric Vision Laboratory[retinafoundation.org]

  • 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] For over 30 years, the Retina Foundation has focused on developing treatments for age-related macular degeneration, pediatric eye disorders, and inherited eye diseases.[wayne.edu]

  • 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] disorders of glucose metabolism secondary to genetic diseases.[books.google.es]

  • 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] Apply the latest treatment options in pediatric care with new chapters on pediatric sleep disorders, pediatric infectious disease, and evaluation and management of the infant[books.google.com]

  • Familial Progressive Vestibulocochlear Dysfunction

    The vessels are very thin, and there is a characteristic pigment called bone spicules. Figure 3.[audiologyonline.com] Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients.[asperbio.com] Pediatrics, 102, 1452–1459. National Institute on Deafness and Other Communication Disorders. Genetics of enlarged vestibular aqueducts. Retrieved April 17, 2007.[asha.org]

  • 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] Pediatr Radiol. 2001; 31 :27–30. [ PubMed ] [ Google Scholar ] 4. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision.[ncbi.nlm.nih.gov]

  • Vestibular Aqueduct Dilated

    Heterogeneous lesion with “moth- eaten” retrolabyrinth petrous bone b. Intratumoral spiculated bone seen c. Intense enhancement in seen 97 93.[slideshare.net] The incidence of SLC26A4 related hearing loss is approximately 1 in 7500 and variants in this gene may cause up to 5-10% of congenital hearing loss.[personalizedmedicine.partners.org] This book covers the critical topics of otitis media, chronic sinusitis, foreign bodies, and sleep-disordered breathing.[books.google.de]

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