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107 results
  • Waardenburg syndrome with dry eyes: A rare association. [Case Reports]
    Taiwan J Ophthalmol 2019 Jul-Sep; 9(3):198-201Shrinkhal , Singh A, … Yadav P
  • Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and na…
  • Case of Waardenburg Shah syndrome in a family with review of literature. [Review]
    J Otol 2018; 13(3):105-110Chandra Mohan SLN
  • Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair …
  • Rare Association of Waardenburg Syndrome with Minimal Change Disease. [Case Reports]
    Indian J Nephrol 2018 May-Jun; 28(3):226-228Anvesh G, Raju SB, … Surendra M
  • Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of hearing loss, pigmentary anomalies, and defects of other neural crest cell-derived structures. The association of WS with renal anomalies has been described in the literature. However, nephrotic syndrome is a very rare association with WS, and only one case has been reported in the literature. We report a cas…
  • Waardenburg syndrome: A rare case. [Case Reports]
    Oman J Ophthalmol 2018 May-Aug; 11(2):158-160Rawlani SM, Ramtake R, … Rawlani SS
  • Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilatera…
  • Horse hair follicles: A novel dermal stem cell source for equine regenerative medicine. [Journal Article]
    Cytometry A 2018; 93(1):104-114Michler JK, Hillmann A, … Mülling CKW
  • The easily accessible niche represented by skin and its appendages may serve as a promising source to complement modern regenerative medicine for horses. In humans and in animal models for human medicine, the hair follicle and its stem cell niches are well characterized. Since literature in this field of equine research is scarce, we sought to analyze cells of the dermal stem cell niche of the eq…
  • Association of Piebaldism with Café-au-Lait Macules. [Case Reports]
    Skinmed 2017; 15(3):223-225Kansal NK, Agarwal S
  • A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white …
  • GeneReviews®: Waardenburg Syndrome Type I [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AMilunsky JMBOOK
  • Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilater…
  • Enhanced dynamic range x-ray imaging. [Journal Article]
    Comput Biol Med 2017; 82:40-48Haidekker MA, Morrison LD, … Burke E
  • X-ray images can suffer from excess contrast. Often, image exposure is chosen to visually optimize the region of interest, but at the expense of over- and underexposed regions elsewhere in the image. When image values are interpreted quantitatively as projected absorption, both over- and underexposure leads to the loss of quantitative information. We propose to combine multiple exposures into a c…
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