- A Case of Type 2 Waardenburg Syndrome with Open angle Glaucoma
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Lee OY, Choi YJ, Jung NH
- KMID: 2205704
- J Korean Ophthalmol Soc.
- 1999 Dec;40(12):3532-3535.
Waardenburg syndrome is a very rare auditory-pigment syndrome with autosomal dominant inheritance. In his first report in 1951, Waardenburg characterized this syndrome as dystopia canthorum, a high broad nasal bridge,... -
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- Two Cases of Waardenburg's Syndrome
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Moon YS, Kim JC
- KMID: 2204803
- J Korean Ophthalmol Soc.
- 1986 Aug;27(4):735-740.
Waardenburg's syndrome is a very rare hereditary disease with the outstanding clinical characteristics including lateral displacement of the medial canthi of the eyes and of the inferior lacrimal puncta, a... -
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- Waardenburg's Syndrome in a Boy and Mother
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Kim DH, Kim MY, Suh CS, Kim SY, Jung JY
- KMID: 1682595
- J Korean Pediatr Soc.
- 1988 May;31(5):655-659.
No abstract available. -
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- IV Deep Sedation Management of Waardenburg Syndrome Child during Dental Treatment: A Case Report
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Kim SO
- KMID: 2345147
- J Korean Dent Soc Anesthesiol.
- 2006 Jun;6(1):6-12.
- doi: 10.17245/jkdsa.2006.6.1.6
IV Deep sedation is useful for Waardenburg syndrome Child undergoing extensive dental treatment. We experienced a case of dental treatment under IV deep sedation in a 3 years old boy... -
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- A Case of Waardenburg Syndrome Type 4
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Shim HC, Kim JK, Park DJ
- KMID: 2216469
- J Korean Ophthalmol Soc.
- 2013 Jan;54(1):176-179.
- doi: 10.3341/jkos.2013.54.1.176
PURPOSE: To report the first case of Waardenburg syndrome type 4 in Korea. CASE SUMMARY: A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The... -
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- Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome
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Choi BG, Kim YH
- KMID: 2462489
- Arch Craniofac Surg.
- 2019 Oct;20(5):329-331.
- doi: 10.7181/acfs.2019.00395
Telecanthus is a common symptom accompanied by Waardenburg syndrome, a rare genetic disorder. The optimal surgery for telecanthus correction is still debated. A 28-year-old patient with Waardenburg syndrome underwent transnasal... -
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- A Case of Waardenburg Syndrome Type 2 With Anisocoria
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Lee SC
- KMID: 2337890
- J Korean Ophthalmol Soc.
- 2010 Oct;51(10):1423-1426.
PURPOSE: To report a case of Type 2 Waardenburg syndrome with anisocoria. CASE SUMMARY: A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the... -
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- Three Cases of Waardenburg's Syndrome in One Family
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Song HK, Shin DE
- KMID: 2204837
- J Korean Ophthalmol Soc.
- 1987 Oct;28(5):1137-1142.
Warrdenburg's syndrome, a rare hereditary disease, may be transmitted as an irregular autosomal dominant traits, which is distinguished by lateral displacement of the medial canthi and inferior lacrimal puncta, broad... -
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- Waardenburg's Syndrome in Son and Mother
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Choi SJ, Kim KS, Yu HJ, Sohn SJ
- KMID: 1679607
- Korean J Dermatol.
- 1986 Aug;24(4):563-566.
We report a case of Waardenburgs syndrome in 18-year-old male patient who has total deafness of the right ear, heterochromia irides, hypopigmented patches on the face and trunk, and disseminated... -
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- Type 3 Waardenburg Syndrome
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Kee SY, Lee YC, Lee SY
- KMID: 2126277
- J Korean Ophthalmol Soc.
- 2005 Apr;46(4):726-730.
PURPOSE: We report a case of Type 3 Waardenburg syndrome accompanied by intermittent exotropia, which had not previously been encountered in Korea along with the literature study. METHODS: A 5-year-old... -
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- The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
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Lee ES, Ko JM, Moon JS
- KMID: 2401812
- J Genet Med.
- 2017 Dec;14(2):86-89.
- doi: 10.5734/JGM.2017.14.2.86
Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS... -
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- Congenital Deafness associated with Piebaldism
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Kim SM, Lee SM, Kim EK
- KMID: 1891573
- Korean J Dermatol.
- 1996 Apr;34(2):304-308.
Woolf syndrome is characterized by piebaldism and congenital deafness. Facial features of Waardenburg syndrome are absent and the parents and siblings are unaffected. We report herein a case of Woolf... -
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- Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
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Jang MA, Lee T, Lee J, Cho EH, Ki CS
- KMID: 2363211
- Ann Lab Med.
- 2015 May;35(3):362-365.
- doi: 10.3343/alm.2015.35.3.362
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including... -
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- Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
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Hogan AR, Rao KA, Thorson WL, Neville HL, Sola JE, Perez EA
- KMID: 2457751
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Sep;22(5):487-492.
- doi: 10.5223/pghn.2019.22.5.487
Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX... -
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