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PedAM

Pediatric Disease Annotations & Medicines




Disease williams-beuren syndrome
Phenotype C0014848|achalasia
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PubMedID- 22053584 Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (ger), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with williams-beuren syndrome in the literature.

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