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Spot Diagnosis

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Jan 17, 2014.

  1. Maher Mufid El-Khalidi

    Maher Mufid El-Khalidi Bronze Member

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    Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome,Waardenburg type Pierpont, Van der Hoeve-Waardenburg-Klein syndrome, Waardenburg's syndrome II and Vogt’s syndrome) is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. Disruptions in myogenesis, particularly mutations in Pax3, can cause Waardenburg syndrome I and III......ref:-wikpipedia


    Waardenburg syndrome typically manifests with congenital iris pigmentary abnormalities, but careful inspection can reveal additional posterior uveal pigmentary abnormalities. To demonstrate iris and choroidal hypopigmentation in patients with Waardenburg syndrome. Retrospective review of 7 patients referred for evaluation of presumed ocular melanocytosis. To describe the clinical and imaging features of the anterior and posterior uvea. 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. Family history of Waardenburg syndrome was elicited in 5 of 7 (71%) patients. Ocular features (7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients. No patient had muscle contractures or Hirschsprung disease. Visual acuity was 20/20 to 20/50 in all patients. Iris hypopigmentation in 8 eyes was sector in 6 (75%) and diffuse (complete) in 2 (25%). Choroidal hypopigmentation in 9 eyes (100%) showed a sector pattern in 6 (67%) and a diffuse pattern in 3 (33%). Anterior segment optical coherence tomography revealed the hypopigmented iris to be thinner and with shallower crypts than the normal iris. Posterior segment optical coherence tomography showed a normal retina in all patients, but the subfoveal choroid in the hypopigmented region was slightly thinner (mean, 197 μm) compared with the opposite normal choroid (243 μm). Fundus autofluorescence demonstrated mild hyperautofluorescence (scleral unmasking) in hypopigmented choroid and no lipofuscin abnormality. Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging features showing a slight reduction in the thickness of the affected tissue.

    Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I–IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree.

    Out of five major and five minor criteria of Waardenburg syndrome, either two major or one major plus two minor criteria must be present for diagnosing WS 1 . WS III is similar to type I with additional musculoskeletal abnormalities. WS IV is associated with Hirschsprung disease

     

  2. kaspaz

    kaspaz Bronze Member

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    Waardenburg syndrome
     

  3. Nana Shonk

    Nana Shonk Bronze Member

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    Shah-Waardenburg syndrome
     

  4. docelaine

    docelaine Active member

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    ?
     

  5. tranky

    tranky Well-Known Member

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    Dr Mona Well-Known Member

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    Nuzhat Well-Known Member

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    Waardenburg's syndrome
     

  8. Raj 71

    Raj 71 Active member

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    Cealpiaz Active member

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    Mark Chan Well-Known Member

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    lina tarawneh Young Member

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    naz Well-Known Member

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  14. Ilona

    Ilona Well-Known Member

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  15. JasmineZ

    JasmineZ Well-Known Member

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    Noshina Active member

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    MAdam Young Member

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    betty boop Famous Member

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    M.Anas Active member

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    sinned Well-Known Member

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