Aloi Tomasini Isaia syndrome

MONDO:0021845

A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.

Also known as: basal cell nevus anodontia abnormal bone mineralization, basal cell nevus, anodontia, abnormal bone mineralization, unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization

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