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. 2013 Oct;92(10):899–904. doi: 10.1177/0022034513502054

Figure 1.

Figure 1.

Clinical and mutational analysis of Family 1. (A) Pedigree of Family 1. The “plus” symbol indicates members recruited for this study. (B) Frontal and maxillary occlusal clinical photographs of the proband. The enamel surface has many hypoplastic pits and linear grooves, mostly in a vertical orientation, which are highlighted by disclosing solution applied to the maxillary labial surfaces. There are no signs of gingival hypertrophy. (C) Comparison of the LAMB3 exon 23 sequencing chromatograms for the unaffected family member (II:2) with the wild-type (top) sequence and the mutated allele in the proband (III:2) reveals an 8-bp deletional mutation: c.3446_3453delGACTGGAG, p.Gly1149Glufs*8. (D) Panoramic and bitewing radiographs of the proband show generally thin enamel that is only sometimes in contrast to dentin. The maxillary and mandibular first molars show signs of taurodontism.