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606 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Narrowing of the Ureteropelvic Junctions

  • 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] 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]

    Missing: Narrowing of the Ureteropelvic Junctions
  • 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] Fundoscopic findings showed optic disc pallor, narrowing of retinal vessels, and peripheral bone spicules (only in cases 3 and 4) in OU of all patients.[200.98.68.239]

  • Retinitis

    Examples of bone spicules.[healio.com] […] areas, including the ureteropelvic junction, pelvic brim, and ureterovesical junction.[emedicine.medscape.com] SignsSigns In chronological order :In chronological order :  Arteriolar narrowingArteriolar narrowing  Peripheral bone-spicule pigmentsPeripheral bone-spicule pigments 23[slideshare.net]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • 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] Retinal hyperpigmentation in bone spicules at mid-periphery. Pigment clumping in macular area. Extensive atrophy of retinal pigment epithelium.[journalretinavitreous.biomedcentral.com]

    Missing: Narrowing of the Ureteropelvic Junctions
  • 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]

    Missing: Narrowing of the Ureteropelvic Junctions
  • Usher Syndrome Type 1J

    Similar to other types of retinitis pigmentosa, fundus features include peripheral retinal atrophy with bone-spicule-like pigmentation, vascular attenuation, and waxy-pallor[webeye.ophth.uiowa.edu] 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] Attenuation of retinal vessles, bone spicules in midperiphery, and waxy pallor of optic nerve head.[healio.com]

    Missing: Narrowing of the Ureteropelvic Junctions
  • Retinitis Pigmentosa

    spicules.[ncbi.nlm.nih.gov] Dilated funduscopy also showed bone spicule-like pigmented deposits, typical for retinitis pigmentosa.[ncbi.nlm.nih.gov] The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Narrowing of the Ureteropelvic Junctions
  • 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] 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]

    Missing: Narrowing of the Ureteropelvic Junctions
  • Tietz Syndrome

    From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org] Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on[wikidata.org]

    Missing: Bone Spicules Narrowing of the Ureteropelvic Junctions
  • 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] Signs Dispersion and aggregation of retinal pigment produce changes ranging from granules or mottling to distinctive focal aggregates with the appearance of bone spicules.[patient.info]

    Missing: Narrowing of the Ureteropelvic Junctions

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