ArticlePerioperative medicine (London, England)2020
Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan.
Article in Perioperative medicine (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.Children (Basel, Switzerland) · 2025Review
- Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.International journal of molecular sciences · 2025Article
- Article
- Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.BMC pediatrics · 2021Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, iris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction.
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