Figure 1.
Clinical imaging in LRP5 HBM. (A) Axial computed tomography image showing markedly thickened skull in male aged 30 years with p.Asn198Ser substitution (pedigree 1). (B) Mandible enlargement in female aged 49 years with p.Ala242Thr substitution (pedigree 2). (C) Asymmetric mandible enlargement with partial left cranial nerve V and VII impairment in female aged 21 years with p.Ala242Thr substitution (pedigree 3).