Case report reveals a novel PTCH1 nonsense mutation presenting with oligodontia and short tooth roots, highlighting rare craniofacial phenotypes in basal cell nevus syndrome.
Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in PTCH1 who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root.
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Murata et al. (2019) studied this question.
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