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Review
. 2018 Sep;13(3):105-110.
doi: 10.1016/j.joto.2018.05.005. Epub 2018 Jun 8.

Case of Waardenburg Shah syndrome in a family with review of literature

Setty L N Chandra Mohan  1
Affiliations
Review

Case of Waardenburg Shah syndrome in a family with review of literature

Setty L N Chandra Mohan. J Otol. 2018 Sep.

Erratum in

Abstract

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 (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.

Keywords: Dystopia canthorum; Hirschsprung disease; Waardenburg Shah Syndrome.

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Figures

Fig. 1
Fig. 1
Formula for measuring waardenburg index.
Fig. 2
Fig. 2
Proband with homochromia irides (A) and Sprengel deformity with prominent medial border of scapula (B).
Fig. 3
Fig. 3
Female sibling with broad nasal root and homochromia irides.
Fig. 4
Fig. 4
Father of the siblings with white forelock of hair (white arrow).
Fig. 5
Fig. 5
BERA in proband (a,b) and female sibling (c,d) showing presence of only wave V at latency of 5.6 ms, 5.9 ms, 5.67 ms, 6.2 ms respectively.
Fig. 6
Fig. 6
CT of proband (A) showing bilateral filling of middle ear (g), cochlea (a), malleus (e), incus (f), stapes (d), CT of female sibling (B) with bilateral filling of middle ear (g), cochlea (a), malleus (e), incus (f), stapes (d).
See this image and copyright information in PMC

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