Abstract
Normal and abnormal vertebral development have been studied over the past 200 years at increasing levels of resolution as techniques for biological investigation have improved. Disordered development of the axial skeleton from the early embryonic period on leads to structurally malformed vertebrae and intervertebral discs and ribs causing the severe deformities of scoliosis, kyphosis, and kyphoscoliosis. Developmental malformation of the axial skeleton therefore has led to considerable biological and clinical interest. This work will detail our studies on the structural deformities of the vertebral column and adjacent ribs in the pudgy mouse [1] caused by mutations in the delta-like 3 (Dll3) gene of the Notch family [2]. While gene abnormalities in the pudgy mouse have been outlined, there has been no in-depth assessment of the histopathology of the pudgy vertebral and rib abnormalities that this study will provide. In addition, although congenital scoliosis has been recognized as a clinical problem since the mid-nineteenth century (1800s) [3] and accurately defined by radiography since the early twentieth century (1900s) [4–6], there have been few detailed histopathologic studies of human cases. We will also relate our histopathologic findings in the pudgy mouse to the histopathology of human vertebral and rib malformations in clinical cases of congenital scoliosis, one of which we defined in detail previously [7].
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References
Grünberg H (1961) Genetical studies on the skeleton of the mouse. XXIX Pudgy Genet Res 2:384–393
Kusumi K, Sun ES, Kerrebrock AW, Bronson RT, Chi D-C, Bulotsky MS, Spencer JB, Birren BW, Frankel WN, Lander ES (1998) The mouse pudgy mutation disrupts Delta homologue DII3 and initiation of early somite boundaries. Nat Genet 19:274–278
Rokitansky C (1839) Beyträge zur Kenntnis der Rückgrathskrümmungen, und der mit denselben zusammentreffenden Abweichungen des Brustkorbes und Beckens. Schluss Medizinisches Jahrbuch des k k österreichischen Staates. NF XXVIII(28):195–211
Putti V (1909) Die Angeborenen Deformitäten der Wirbelsäule. Fortschr Röntgenstr 14:285–313
Putti V (1910) Die Angeborenen Deformitäten der Wirbelsäule. Fortschr Röntgenstr 15:65–92
Putti V (1910) Die Angeborenen Deformitäten der Wirbelsäule. Fortschr Röntgenstr 15:243–292
Shapiro F, Eyre DR (1981) Congenital scoliosis. A histopathologic study. Spine 6:107–118
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Shapiro, F. (2016). Introduction. In: Disordered Vertebral and Rib Morphology in Pudgy Mice. Advances in Anatomy, Embryology and Cell Biology, vol 221. Springer, Cham. https://doi.org/10.1007/978-3-319-43151-2_1
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DOI: https://doi.org/10.1007/978-3-319-43151-2_1
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