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High Myopia-Sensorineural Deafness Syndrome

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Presentation

  • In WS III, upper-limb abnormalities are present, and in WS IV, Hirschsprung disease is present. Mutations in PAX3 cause WS I and WS III. Mutations in MITF cause some cases of WS II.[quizlet.com]
  • This can present as white flecks near the macula and periphery of the retina. However, the patient’s vision is not affected with this.[news-medical.net]
  • About 50% of patients presenting with a first episode of optic neuritis but no other signs of MS have demyelinating lesions on MRI. There is evidence of present or past optic neuritis in 70% of MS patients.[patient.info]
  • Study presented at I Congresso Triológico de Otorrinolaringologia, November 13 - 18, 1999, in São Paulo /SP.[oldfiles.bjorl.org]
  • Abstract We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria.[jmg.bmj.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.de]
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or Marshall syndrome.[wikidoc.org]
  • Interpretation of electrical signals: occipital cortex and surrounding tissues (brain) Problem List: eye problems seen in CHARGE Problem Test(s) Specialist Coloboma of the iris (keyhole pupil) External examination Ophthalmologist Pediatrician/Family physician[chargesyndrome.org]
Anemia
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.de]
  • Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever, aphthous stomatitis, pharyngitis and adenitis Sickle cell anemia[checkrare.com]
  • […] progressive external ophthalmoplegia Autosomal dominant spastic paraplegia type 13 Autosomal recessive cutis laxa type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive nonsyndromic intellectual deficit Blackfan-Diamond anemia[csbg.cnb.csic.es]
  • At the other end of the extreme, hemorrhaging, anemia, or extensive liver or central nervous system damage may occur.[tsbvi.edu]
  • […] syndrome AD 21 56 SEMA3E CHARGE syndrome AD 1 4 SERPINB6 Deafness AR 2 3 SIX1 Deafness, Branchiootic syndrome, Branchiootorenal syndrome AD 11 19 SIX5 Branchiootorenal syndrome AD 3 10 SLC17A8 Deafness AD 1 8 SLC19A2 Thiamine-responsive megaloblastic anemia[blueprintgenetics.com]
Delayed Speech Development
  • If an individual or the parents of a child raise concern about the possibility of hearing loss or, if the child is young, and there is concern regarding delayed speech development or poor social interaction, the initial evaluation should include a detailed[nature.com]
Vascular Disease
  • Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new[books.google.de]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.de]
Cleft Lip and-or Palate
  • lip palate psychomotor retardation Pillay syndrome Glucose-galactose malabsorption Spastic ataxia Charlevoix-Saguenay type Autosomal dominant palmoplantar keratoderma and congenital alopecia McKusick Kaufman syndrome Branchial arch syndrome X-linked[checkrare.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.com]
  • Differential diagnosis The differential diagnosis includes other type II/XI collagenopathies: Knobloch syndrome Wagner syndrome Multiple epiphyseal dysplasia Kniest dysplasia (Metatropic dwarfism, type II) General treatment Treatment of Stickler syndrome[eyewiki.aao.org]
  • At present, there is no treatment for this condition.[afb.org]

Prognosis

  • Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis.[eyewiki.aao.org]
  • This condition is not life-threatening but the functional prognosis depends on the degree of visual and hearing handicap and might be poor. Qatar Kantarci et al. (2007) described two female siblings with DBS and born to healthy first cousin parents.[cags.org.ae]
  • There may be some benefit in those with tumor-related (58) or traumatic VI nerve palsies (51, 59) (60), which do not have as good a natural prognosis.[neuroophthalmology.ca]
  • Determining the etiology of hearing loss is important in determining prognosis (e.g. whether the severity of hearing impairment will worsen), optimal therapeutic interventions (e.g. hearing aids, cochlear implant, sign language) and recurrence risks to[personalizedmedicine.partners.org]
  • Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):319-24. Stickler GB, Belau PG, Farrell FJ et al. Hereditary Progressive Arthro-Ophthalmopathy.[hypermobility.org]

Etiology

  • Background Hearing loss has an incidence of 1 in 250 births and over half of isolated childhood hearing loss has a genetic etiology, with many genes involved.[personalizedmedicine.partners.org]
  • Etiology of Deafness 15. Autosomal Dominant Disorders 75-80% of genetic deafness attributed to AR inheritance, 18-20% to AD, with the remainder classified as X-linked or chromosomal disorders 16.[slideshare.net]
  • WALGER, M.; ZOROWKA, P.- Etiology of moderate an( profound deafness in childhood. HNO, 46(3): 252-263 1998. 4. GOBLIN, R. J.; TORIELLO, H. V.; COHEN JR., M.[oldfiles.bjorl.org]
  • Both comitant and non-comitant esotropia have many etiologies.[neuroophthalmology.ca]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52. Robin NH et al. Stickler Syndrome. GeneReviews 2000 June 9 (Updated 2014 Nov 26)[asperbio.com]
  • Epidemiology 1-3/1000 live births - 1/1000 at birth and 2/1000 at 9-16years (due to delayed diagnosis, acquired hearing loss, late onset or progressive hearing loss).[starship.org.nz]
  • Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993; 46 : 486–491. 8. Cohen MM, Gorlin RJ. Epidemiology, etiology, and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, editors.[nature.com]
  • Genetic epidemiology of hearing impairment. Ann NYAS 630;16-31. Nakamura Y and others. Abnormal evoked potentials of Kearns-Sayre syndrome.[dizziness-and-balance.com]
Sex distribution
Age distribution

Pathophysiology

  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]
  • Alport Syndrome Genetics and Inheritance Alport Syndrome Pathophysiology[news-medical.net]
  • The exact pathophysiological mechanism is unclear; however it is most probably associated with the expression of type II and IX collagen in the inner ear 2, 4.[centogene.com]
  • Pathophysiology Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. [2] Normal collagen fibrils are composed of three[eyewiki.aao.org]

Prevention

  • As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention.[eyewiki.aao.org]
  • Unfortunatly there is no way of hearing loss prevention. Although hearing aids and implants that require surgical implantation are accessible.[medigoo.com]
  • To prevent metabolic coma, diet and treatment should be initiated as soon as possible[quizlet.com]
  • Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss[babyhearing.org]
  • Early detection through regular eye examination and prompt treatment is essential to prevent vision loss.[afb.org]

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