Waardenburg-Shah Syndrome: a rare case in an Indian child

Pattebahadur, Rajesh; Singhi, Shipra; Maharana, Prafulla K.

doi:10.1136/bcr-2016-216366

Cited by 4 publications

(3 citation statements)

References 5 publications

(4 reference statements)

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“…with our study 6. As per study of Sharma et al of a case study of two cases of Waardenburg syndrome showed Type III and Type IV are rare compared to Type I and Type II which had two cases of Type II Waardenburg syndrome which corelates with our study of four cases showing two of each Type I and II cases 7. …”

supporting

confidence: 88%

Waardenburg syndrome: case series

Sachdeva

Jayakumar

Jaiswal

2021

Int J Otorhinolaryngol Head Neck Surg

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<p class="abstract">Waardenburg syndrome is a rare genetic disorder of neural crest cell development with incidence of 1:42000 to 1:50,000. The syndrome is not completely expressed and hence adds to its hetergenecity with symptoms varying from one type of syndrome to another and from one patient to another. Unilateral heterochromia that manifests in some people is associated with Waardenburg syndrome and Parry-Romberg syndrome. This is a case series of four cases with features of Waardenburg syndrome with variable presentations and familial inheritance.</p>

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supporting

confidence: 88%

Waardenburg syndrome: case series

Sachdeva

Jayakumar

Jaiswal

2021

Int J Otorhinolaryngol Head Neck Surg

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“…Waardenburg syndrome has been previously reported in the paediatric population. Ng et al and Pattebahadur et al reported an association of Hirschsprung disease with Waardenburg syndrome 4 5. There is a paucity of literature on the association of neurodevelopmental conditions with this genetic syndrome.…”

Section: Discussionmentioning

confidence: 99%

Association of autism spectrum disorder with Waardenburg syndrome in a toddler

George,

Sam,

Tanwar

et al. 2023

BMJ Case Rep

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Waardenburg syndrome is a rare genetic condition with an incidence of 1 in 212 000. The condition is classically associated with distinctive facial features, congenital hearing loss and pigmentary changes of the hair, iris and skin. There is a paucity of literature about the association of neurodevelopmental conditions with this syndrome. We present a toddler with Waardenburg syndrome type 1 who was referred to our service for developmental delay concerns. The child was diagnosed with the condition at birth, had distinctive facial features, but the hearing was normal. The child’s father also shares a similar mutation. Following a multidisciplinary assessment, the child was diagnosed to have autism spectrum disorder with possible regression. We acknowledge that there may not be a causal relationship between autism spectrum and Waardenburg syndrome. However, this highlights the need for developmental surveillance among children diagnosed with Waardenburg syndrome and to consider its association with neurodevelopmental conditions.

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“…(32) Além disso, um dos primeiros sintomas que pode aparecer nessa doença é uma descoloração azulada dos olhos. (33) Na SW, podem ser encontradas a heterocromia parcial, total ou segmentar da íris, que pode ser tanto unilateral como bilateral. (1)…”

Section: Síndrome De Waardenburgunclassified