单词 | pycnodysostosis |
释义 | pycnodysostosisn. Medicine. An inherited (autosomal recessive) disorder in which there is excessive density and fragility of bones, typically resulting in short stature, an enlarged skull with widened sutures, a small jaw, and abnormality of the fingertips. ΘΚΠ the world > health and disease > ill health > a disease > diseases of tissue > disorders of bones > [noun] > other bone disorders osteocachexy1857 osteitis deformans1877 Paget's disease1889 megalacria1891 osteochondritis dissecans1895 osteogenesis imperfecta1899 von Recklinghausen's disease1910 Albright's syndrome1940 fibrogenesis imperfecta ossium1952 pycnodysostosis1963 McCune–Albright syndrome1966 1963 Arch. Dis. Childhood 38 620/1 Pycnodysostosis is a term coined by Maroteaux and Lamy..to describe one such variant. This is definitely a condensing bone disorder. 1985 Skeletal Radiol. 13 97 In various skeletal dysplasias (e.g., pyknodysostosis, van Buchem disease), the exact mechanism for the development of the diffuse sclerotic process is not clearly understood. 1991 N.Y. Rev. Bks. 19 Dec. 15/2 Medical experts now think that Lautrec suffered from a very rare bone disorder, pycnodysostosis, the result of his parents' consanguinity... The disease prevented the growth of his legs and left him with unusually small hands and feet, an overlarge cranium, receding chin, and slightly fleshy nose and lips. This is a new entry (OED Third Edition, December 2007; most recently modified version published online March 2022). < n.1963 |
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