Basal cell naevus syndrome
Definition: An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.
Synonyms (terms occurring on more labels are shown first): Basal Cell Nevus Syndrome
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