Fig. 1.

Phenotypes, family pedigree, and genotypes of SD patients. (A–D) Patient-1, a 16-year-old male with ACMICD, had microstomia, malocclusion, and unerupted teeth. The heterozygous missense LTBP3 variant, c.2017G > T, p.(Gly673Cys), was identified in patient-1, but not in the mother. (E–H) Patient-2, a 2-year-old girl with HCH and HPP, had hypomineralized enamel, a missing deciduous lower left canine (arrowhead in (F)), and early loss of the deciduous mandibular right central incisor (arrow in (F)). The patient had the heterozygous FGFR3 variant, c.1612A > G, p.(Ile538Val), inherited from the mother and the compound heterozygous ALPL variants, c.1460C > T, p.(Ala487Val) and c.1479C > A, p.(Asn493Lys), inherited from the mother and father, respectively. (I–L) Patient-3, a 20-year-old female with CCD, had multiple unerupted teeth, supernumerary teeth, retained deciduous teeth, and the RUNX2 c.673C > T, p.(Arg225Trp) variant. Other family members did not have the variants. (M–O) Patient-4, a 7-year-old girl with ACH, had malocclusion, hypoplastic teeth, and the heterozygous FGFR3 c.1138G > A, p.Gly380Arg variant. In the pedigree, black arrow indicates the proband. A horizontal line above each symbol indicates the subjects having genetic analyses