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. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: Am J Med Genet A. 2019 Jan 17;179(3):486–493. doi: 10.1002/ajmg.a.61034

Figure 2. Patient 2 at age 8.5 years.

Figure 2

A) Bilateral cloudy cornea, short neck, hirsutism, and incompetent lip. B) Crowding of teeth with anterior open bite and macroglossia. Pathologic attrition of primary teeth. C) Lateral cephalograph of patient 2 at age 8.5 years. Note thick cranium and absence of the dens of the second cervical spine (arrow). D) Panoramic radiograph of patient 2 at ages 8.5 years. Note generalized wide root canal spaces of the permanent teeth. Anterior open bite, and malposition of unerupted mandibular first permanent molars. Roots of the first permanent molars are slightly diverged. The cortex of the lower border of the mandible near the apices of the molar roots was eroded (yellow arrows). Note hyperplastic dental follicles of the mandibular second permanent molars and the mandibular second premolar (green stars), severely hypoplastic right mandibular condyle, and aplastic left mandibular condyle (blue line arrows).