Figure 1
From: Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Clinical photographs, orthopantomogram (OPT), image from cone beam computed tomogram (CBCT), and pedigree of index patient 1 (a–h) and index patient 2 (i–q). (a and b) Frontal and lateral facial photographs of index patient 1 at 12 years of age showing a repaired bilateral cleft lip with a left-sided cleft alveolus and a complete cleft of the anterior and posterior palate. He has a wide nasal base, full nasal tip, wide nasal bridge (h), and a dip in the chin (a and b). (c) His mother and maternal grandmother and her brother also have tooth agenesis (TA) but no other orofacial abnormalities. (d) The patient presented with severe TA or oligodontia; he had agenesis of four deciduous teeth (52, 62, 72, and 82) and was missing 18 teeth in the permanent dentition, 17 due to TA (teeth 15, 14, 13, 12, 22, 23, 24, 25, 35, 34, 33, 32, 31, 41, 42, 44, 45; excluding third molars) and 1 due to extraction (tooth 36). He had a small median mandibular cleft, which can be seen on the (d) orthopantomogram (OPT) at the green arrow, (f and g) the intraoral photographs, and (h) the horizontal tomographic view of a CBCT. (e) The OPT of the boy’s mother shows severe TA because she was missing 13 permanent teeth. (i and j) Frontal and lateral photographs of index patient 2 at 9 years of age showing mild facial dysmorphic features including a narrow nasal ridge, posteriorly rotated ears with a thin helix, small earlobes, and a long superior crus antihelix. (k) He has unaffected parents and two unaffected brothers. (l) The OPT shows TA of two deciduous teeth (52 and 62) and TA of nine permanent teeth (17, 15, 14, 12, 22, 25, 27, 35, and 45). (l and m) There is an ectopic tooth germ in the upper right molar area (tooth 17 or 18) and a horizontally impacted premolar germ (tooth 24) in the left upper quadrant. (n) The occlusal photograph of the mandibular dental arch in the mixed dentition shows malposition of tooth 32. (o) The shapes of the palatal cusps of teeth 16 and 26 are abnormal, making them resemble a second molar on the occlusal photograph of the maxillary dental arch. (p and q) Clinodactyly of the fifth fingers. DT, deciduous teeth; PT, permanent teeth; OFC, orofacial clefting; STHAG, selective tooth agenesis.
