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   What is Waardenburg syndrome?

   • Waardenburg syndrome. Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS).

   Waardenburg syndrome. - PMC

   www.ncbi.nlm.nih.gov/pmc/articles/PMC1051028/

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   Can Waardenburg syndrome be inherited?

   • People of all races and either sex are equally vulnerable to Waardenburg syndrome. It can be inherited. The condition may also develop spontaneously through a gene mutation. Types 1 and 2 are the most common. Types 3 and 4 are rarer. Waardenburg syndrome can often be diagnosed by a doctor observing obvious clinical features.

   Waardenburg Syndrome: Symptoms, Treatment, and More - Healthline

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   What are the Nonocular features of Waardenburg syndrome?

   • Results \r In all patients, the diagnosis of Waardenburg syndrome was established. The nonocular features included white forelock in 4 of 7 (57%), tubular nose in 5 of 6 (83%), and small nasal alae in 5 of 6 (83%) patients. In 2 patients, a hearing deficit was documented on audiology testing.

   Waardenburg Syndrome: Iris and Choroidal Hypopigmentation

   jamanetwork.com/journals/jamaophthalmology/fullarticle/1713562

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2. www.the-sun.com › lifestyle › 11420162Cruel strangers stare and whisper because of my daughter’s ...

   www.the-sun.com › lifestyle › 11420162

   2 days ago · At first, they diagnosed April with Waardenburg Syndrome, a group of genetic conditions involving the colour of hair, eyes and skin. ...

3. jamanetwork.com › journals › jamanetworkopenVestibular Impairment and Postural Development in Children ...

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   1 day ago · For example, bilateral HL with syncopal episodes and prolonged QT interval on the electrocardiogram is suggestive of Jervell and Lange-Nielsen syndrome, while depigmentation of the iris, skin, or hair and eye heterochromia are suggestive of Waardenburg syndrome.

4. link.springer.com › article › 10Identification of novel and known genetic variants ... - Springer

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   4 days ago · The encoded protein regulates the growth of melanocytes and is responsible for the specific transcription of pigment cell genes, including melanogenesis enzymes. Diseases associated with MITF include Waardenburg syndrome, type 2A, and Tietz albinism-deafness syndrome. The c.1096C > T variant results in a nonsense change, replacing the amino ...

5. elifesciences.org › reviewed-preprints › 95324Impaired central pattern generators due to abnormal EPHA4 ...

   elifesciences.org › reviewed-preprints › 95324

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   4 days ago · Next, we employed an in-house gene matching approach under the framework of DISCO study, which identified a 6-year-old patient (SCO2003P3202) who had been previously diagnosed with Waardenburg syndrome caused by a 4.46 Mb de novo deletion at 2q35-q36.2 (Li et al. 2015) . Intriguingly, the patient also presented mild scoliosis .

6. radiopaedia.org › articles › superior-mesentericSuperior mesenteric artery syndrome | Radiology Reference ...

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   4 days ago · Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, cast syndrome or aortomesenteric duodenal compression syndrome, is a rare acquired vascular compression disorder in which acute angulation of the superior mesenteric artery (SMA) results in compression of the third part of the duodenum, leading to obstruction.

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7. healthsea.com › hearing-lossHearing Loss: What Is, Types, Causes, and Diagnosis

   healthsea.com › hearing-loss

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   5 days ago · Genetic diseases (e.g., connexin 28 mutation and Waardenburg syndrome) Exposure to intense sounds – some patients also develop tinnitus. Hearing loss in such a case is temporary unless there is damage to the eardrum or auditory ossicles and lasts for several hours or days

8. www.howtopronounce.com › waardenburg-syndromeHow to pronounce waardenburg syndrome | HowToPronounce.com

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   4 days ago · Waardenburg syndrome is a collection of genetic disorders that can alter the colour of the skin, hair, and eyes as well as cause hearing loss.