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Schmetz, A., Ballesta-Martínez, M.J., Isidor, B., Sousa, A.B., Wieczorek, D. and Bramswig, N.C. (2024) Adult Syndromology: Challenges, Opportunities and Perspectives: Illustrated by the Description of Four Adults with COSTELLO Syndrome. Journal of Medical Genetics, 36, 95-102.
https://doi.org/10.1515/medgen-2024-2023

has been cited by the following article:

• TITLE: Costello Syndrome and Transitional Cell Carcinoma of Bladder

  AUTHORS: Wasiem Abo Nassra

  KEYWORDS: Costello, Pediatric, Children, Transitional Cell Carcinoma

  JOURNAL NAME: Open Journal of Pediatrics, Vol.14 No.6, November 15, 2024

  ABSTRACT: Costello syndrome is a rare neurodevelopmental disorder (RASopathy) caused by activating germline mutation in HRAS. Due to ubiquitous HRAS gene expression, Costello Syndrome affects multiple organ systems and individuals are predisposed to cancer. A male patient, at 13 years of age, had a suspicion of two small findings in the bladder after he had a history of dysuria and microscopic hematuria by two urine analyses. Both were completely resected and the pathology revealed Fibroepithelial polyps. The patient was followed up by an ultrasound of the bladder every six months.