信号通路医学分子生物学要点.ppt

* * * Figure 1.?Clinical Features of the Osteoporosis-Pseudoglioma Syndrome (A) Lower extremity photograph of a 40-year-old female OPPG patient demonstrating angular deformity of the tibia and fibula, the consequence of multiple fractures occurring during childhood. (B) Lateral lumbar spine radiograph of a 10-year-old male OPPG patient demonstrating abnormal flattening and concavity of the lumbar vertebrae. Affected individuals have normal growth during the first few years of life, but can fall below the normal range for height because of long bone fractures and vertebral collapse. (C) Photograph of the right eye of a 3-month-old male with OPPG demonstrating leukocoria (a white mass behind the pupil resembling retinoblastoma but actually a retrolental membrane). This individual had persistence of the tunica vasculosa partially covering the anterior lens surface, and evaluation of the dense retrolental membrane revealed a vascular central stalk that extended from the optic nerve into the vitreous cavity. (D and E) Iliac crest bone biopsies (both at 40× magnification) from an unaffected 2.5-year-old child (control) and from a 2.5-year-old child with OPPG, respectively. The control biopsy is substantially thicker than the OPPG biopsy. Note that the bone volume in the control (D) allows for only one cortical surface and a substantial trabecular bone network to be contained within the microscopic field. In contrast, both the inner and outer cortices and very little trabecular bone are contained within the field of the OPPG patient (E).  * A magnetic resonance imaging scan (Panel A) shows a markedly thickened calvarium that obliterates the diploic space (thin arrows). All the calvarial bones are affected. A type I Chiari malformation (dashed line and thick arrow) features a 4-to-6-mm cerebellar tonsil herniation. A computed tomographic scan (Panel B) shows mandibular (and maxillary) teeth encased in excessive bone, both buccally and lingually. Also visible is the thicken