Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Abstract excerpt

INTRODUCTION: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies. METHODS: Clinical...

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• Basal Cell Nevus Syndrome
• PTCH1 gene
• Patched-1 Receptor
• Phenotype
• Urinary Tract