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.

中文翻译：

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基底细胞痣综合征的新型PTCH1突变，具有罕见的颅面特征。

基底细胞痣综合征（BCNS）是一种罕见的多系统常染色体显性遗传疾病，其特征是多种表型，包括皮肤的多个基底细胞癌，颌骨牙源性角膜囊肿，偶尔还有唇裂和/或pa裂。在这份报告中，我们描述了一个6岁的日本女孩，在PTCH1中有一个新的杂合性无意义突变，这些突变表现出罕见的颅面表型，如少牙症和短齿根。