Edit concept Question Editor Create issue ticket

X-Linked Mixed Deafness with Perilymphatic Gusher

X-Linked Stapes Gusher Syndrome


Presentation

  • Abstract A new pedigree with 9 obligate and 10 probable female carriers of the X-linked mixed deafness syndrome is presented.[ncbi.nlm.nih.gov]
  • Presents new contributors for 14 chapters to provide you with authoritative coverage and the dynamic perspectives of leaders in the field.[books.google.de]
  • […] sensorineural hearing loss X-linked stapes gusher syndrome Prevalence: Unknown Inheritance: X-linked recessive Age of onset: Infancy ICD-10: H90.8 OMIM: 304400 UMLS: C1844678 MeSH: - GARD: 4504 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • List of Genetic Loci Contained within and Flanking the Deletions Locus Description Family G Family H RPS6KA6 Ribosomal protein S6 kinase, 90kDa, polypeptide 6 Present Present CXorf43 Chromosome X open reading frame 43 Present Present FAM121A Family with[iovs.arvojournals.org]
  • The conductive hearing loss component, which may or may not be present, is due to fixation of the stapes.[personalizedmedicine.partners.org]
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.com]
  • Your physician will suggest selected laboratory and x-ray studies based on the physical examination and history involving your particular child.[pediatric-ent.com]
  • Recognition of these findings should alert the physician to review the family history carefully to avoid potential treatment complications in relatives with hearing loss.[ajnr.org]
  • Salkeld ORL Dr Andrew Gordon ORL Dr Nerine Gregersen Genetics Dr Jon Skinner Cardiology Joanna Wallace Audiology References Evidenced based guidelines for the Medical Evaluation of children with hearing loss by the British Association of Audiovestibular Physicians[starship.org.nz]
Surgical Procedure
  • The test of mobility of the ossicular chain was performed in the surgical procedure showing the fixation of the stapes.[arquivosdeorl.org.br]
  • It also suggests that surgical procedures aimed at increasing flow in the endolymphatic duct, such as for Meniere's disease, may be poorly concieved.[dizziness-and-balance.com]
  • Results of POU3F4 mutation testing are important not only for a proper genetic counseling, but also for adequate preparation and conduction of a surgical procedure.[journals.plos.org]
Hypertension
  • The results suggest that the tympanic membrane displacement measurement technique may serve as a screening test in audiological diagnostic studies of perilymphatic hypertension.[ncbi.nlm.nih.gov]
  • DISCUSSION Perilymphatic hypertension or "gusher" is an important complication observed during stapedotomy or espedectomia (1).[arquivosdeorl.org.br]
  • Reid, A., Cottingham, C.A. and Marchbanks, R.J. (1993) The prevalence of perilymphatic hypertension in subjects with tinnitus: A pilot study. Journal of Scandinavian Audiology. 22, 61-63.[marchbanks.co.uk]
  • Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3–p11.4. J. Med. Genet. 47, 786–790 (2010). 24. Gal, A., Wieringa, B., Smeets, D.[nature.com]
Progressive Hearing Loss
  • Three had congenital progressive hearing loss, one of these had an accompanying large vestibular aqueduct and dysplasia of the cochlea. Two patients had had meningitis resulting in profound loss.[cambridge.org]
  • This paper reports a case of "gusher" during a stapedotomy and discuss the correlation with X-linked congenital syndrome CASE REPORT Patient NT, 49, female, white, with a history of unilateral progressive hearing loss right for 18 years with worsening[arquivosdeorl.org.br]
  • 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]
  • Progressive Hearing Loss and Head Trauma in Enlarged Vestibular Aqueduct: A Systematic Review and Meta-analysis. .Otolaryngol Head Neck Surg. 2015 Jul 23. pii: 0194599815596343.[dizziness-and-balance.com]
  • Patient’s present with a mixed progressive hearing loss at a young age, delayed speech and subsequent educational difficulties. They are traditionally treated with conventional hearing aids.[wjgnet.com]
Hearing Impairment
  • X-linked Disorders Alport syndrome X-linked mixed hearing impairment with stapes fixation and perilymphatic gusher. Hereditary causes of hearing loss are suspected in all cases of hearing impairment.[pediatric-ent.com]
  • Pure tone audiometry of the three participating hearing-impaired individuals showed bilateral severe-to-profound mixed hearing loss ( Figure 3c ).[nature.com]
  • EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. European journal of human genetics: EJHG. 2013;21(11):1325–9.[journals.plos.org]
  • Recently a case report was published presenting a patient with intrameatal manifestation of an arachnoid cyst causing hearing impairment and tinnitus [ 9 ].[thieme-connect.com]
  • impaired and deaf children, and the orolaryngologist (or paediatrician) work as a team.[starship.org.nz]
Hearing Impairment
  • X-linked Disorders Alport syndrome X-linked mixed hearing impairment with stapes fixation and perilymphatic gusher. Hereditary causes of hearing loss are suspected in all cases of hearing impairment.[pediatric-ent.com]
  • Pure tone audiometry of the three participating hearing-impaired individuals showed bilateral severe-to-profound mixed hearing loss ( Figure 3c ).[nature.com]
  • EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. European journal of human genetics: EJHG. 2013;21(11):1325–9.[journals.plos.org]
  • Recently a case report was published presenting a patient with intrameatal manifestation of an arachnoid cyst causing hearing impairment and tinnitus [ 9 ].[thieme-connect.com]
  • impaired and deaf children, and the orolaryngologist (or paediatrician) work as a team.[starship.org.nz]
Suggestibility
  • Our results suggest that this association may be due to involvement of the DFN3 gene.[scipers.com]
  • The results suggest that the tympanic membrane displacement measurement technique may serve as a screening test in audiological diagnostic studies of perilymphatic hypertension.[ncbi.nlm.nih.gov]
  • Our results suggest that this association may be due to involvement of the DFN3 gene. Keywords Internal Medicine Metabolic Disease Linkage Analysis Blood Clotting Clotting Factor These keywords were added by machine and not by the authors.[link.springer.com]
  • Persons with LVAS may have a large air-bone gap (suggestive of conductive hearing loss) (Merchant et al, 2007).[dizziness-and-balance.com]
  • Suggest Skeeter microdrill, 0.8mm bit. A 0.1mm right angle hook is used to laterally deflect flecks of bone away from the footplate.[medicine.uiowa.edu]
Ataxia
  • Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNAser(UCN) gene. Hum. Mol. Genet. ‎ Page 282 - Lander ES, Linton LM, Birren B, et al.[books.google.com]

Treatment

  • 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 airway.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Gusher syndrome Not supplied. Resources - Gusher syndrome Gusher syndrome: Another name for Deafness mixed with perilymphatic Gusher, X-linked[checkorphan.org]
  • Recognition of congenital X-linked mixed hearing loss is important because it changes the treatment and precludes stapedectomy.[ajnr.org]
  • He became deaf as a baby shortly after gentamicin treatment for meningitis at the age of 1.[wjgnet.com]

Prognosis

  • Diagnosis - Gusher syndrome * Ear Infections: Home Testing: - Home Ear Infection Tests - Home Ear Tests - Home Hearing Tests * Home Andropause Tests * Prostate Health: Home Testing: - Home Prostate Tests - Home PSA Antigen Tests - Home Testosterone Tests Prognosis[checkorphan.org]
  • […] undiscovered mutations may still exist Negative DNA testing does not mean that the cause is not genetic 72 Genetic Diagnosis is important for prognosis, management, and counseling Clinical evaluation is done through a combination of physical examination[slideplayer.com]
  • Identification of this genetic cause (mutation) helps us manage your child’s care, prevents further expensive and invasive tests and gives us information on long term prognosis.[pediatric-ent.com]
  • Carrying out an appropriate audiological and aetiological differential diagnosis when faced with this finding can provide greater perisurgical safety and better knowledge of the physiopathology, clinical evolution and prognosis of some SNHLs.[elsevier.es]

Etiology

  • […] genetic 2% Etiology of Congenital Deafness 10 I.[slideplayer.com]
  • Etiology: While the etiology of otosclerosis remains unknown, there are two main theories regarding its origin; genetic and viral. Genetic. Otosclerosis seems inherited in approximately 50% of cases.[audiologyonline.com]
  • The etiology is a congenital malformation that causes abnormal communication between the perilymphatic space and the subarachnoid space.[arquivosdeorl.org.br]
  • Abstract Introduction Among the temporal bone abnormalities that can be found in the etiological study of paediatric sensorineural hearing loss (SNHL) by imaging techniques, those related to the internal auditory canal (IAC) are the least frequent.[elsevier.es]
  • Epidemiology Etiology and Genetic Patterns ( Oxford University Press, Oxford, 1995). 2. Petersen, M. B., Wang, Q. & Willems, P. J. Sex-linked deafness. Clin. Genet. 73, 14–23 (2008). 3. de Kok, Y. J., van der Maarel, S.[nature.com]

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.com]
  • […] and Etiology 4 Epidemiology All newborns 1-2 / 1000 NICU babies 1-2/200 5 DeClau et all 2008 87,000 NBS 170 screen 116 confirmed permanent loss 91 males, 79 females 68 (58.6%) bilateral, 48 (41.4% unilateral) 55.8% no identified risk factors Etiology[slideplayer.com]
  • As already commented, the only epidemiological association is the greater presence of IAC alterations in syndromic children, as is the case with this patient.[elsevier.es]
  • 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]
  • Symposium publication Section 19: Epidemiology/Genetics/Pathology; in press Moss, S.M., Marchbanks, R.J., Reid, A., Burge, D., and Martin, A.M. (1989) Comparison of intracranial pressure between Spina Bifida patients and normal subjects using non-invasive[marchbanks.co.uk]
Sex distribution
Age distribution

Pathophysiology

  • This indicates that the border zone between IAC fundus and the perilymph space of the inner ear seems to have more pathophysiologic relevance than previously supposed.[thieme-connect.com]

Prevention

  • Tympanoplasty – Gusher as a complication in otosclerosis surgery : how to prevent and react Stapédectomie-laser : poster présenté au congrès de la société royale belge d’ORL le 28/3/15 By E.[espacemessidor.be]
  • Prevention - Gusher syndrome Not supplied.[checkorphan.org]
  • 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]
  • Identification of this genetic cause (mutation) helps us manage your child’s care, prevents further expensive and invasive tests and gives us information on long term prognosis.[pediatric-ent.com]
  • Alcohol related birth defects are the most common cause of MR, LD, SLD An estimated 1/3 of all neurodevelopmental disabilities could be prevented by eliminating alcohol exposures 15 Fetal Alcohol Syndrome Limb abnormalities Crease differences Cardiac[slideplayer.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!