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. 2020 Mar 8;57(10):699–707. doi: 10.1136/jmedgenet-2019-106678

Figure 1.

Figure 1

Common phenotypical characteristics in patients with Loeys-Dietz syndrome (LDS). (A) Narrow and high-arched palate in patient XIX with LDS2 and a high-arched palate in patient IIB with LDS1. The narrow palate in XIX resulted in severe crowding of teeth, malocclusion and posterior crossbite. (B) Bifid uvula in patient XVII with LDS2 and broad uvula in patient IIB. (C) Crowding of lower anterior teeth in patient XXV with LDS2. The crowding resulted from lack of space for permanent teeth mostly due to small (retrognathic) mandible. (D) Increased overjet of anterior teeth (double arrow) and class II dental malocclusion in patient VI with LDS1. (E) Bilateral posterior crossbite in patient IV. (F) Delayed dental eruption pattern in patient XVI with LDS2 with multiple retained deciduous teeth. The incisor was not visible in the oral cavity during patient’s first visit at 10 years of age (top image, arrowhead) but was partially erupted in the visit after 1 year (bottom image, arrowhead). Also notable is the presence of several deciduous teeth at 11 years of age (bottom image, asterisk). (G) Panoramic X-ray of a patient 11 years of age with LDS2 having congenitally missing teeth #4, #20 and #29, along with retained deciduous teeth (asterisk), unerupted permanent teeth (black arrows) and impacted tooth #11 (black arrowhead).