Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.
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肢端骨质增生。
DOI：
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发表时间：
1971
期刊：
影响因子：
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通讯作者：
R. Summitt
中科院分区：
文献类型：
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作者：
M. Robinow;R. Pfeiffer;R. Gorlin;V. McKusick;A. W. Renuart;G. F. Johnson;R. Summitt
肢骨发育不全是一种罕见的先天性畸形综合征，本文根据9例新病例和11例文献报道进行描述。该综合征的主要特征是周围骨发育不全、鼻发育不全、智力缺陷和生长障碍。其他表现包括手、脚和肘部的骨骼过早成熟，以及脊柱、下颌骨和颅骨的一些不太常见的异常。生殖器功能减退、中耳感染和大量色素痣可能是偶发的表现。这种情况通常在出生时或第一年被发现。畸形在生长期缓慢进展。既没有家族发病率，也没有父母的血缘关系。未发现生化缺陷。
Acrodysostosis, a rare congenital malformation syndrome, is described on the basis of nine new cases and 11 cases from the literature. The major features of the syndrome are peripheral dysostosis, nasal hypoplasia, mental defect, and growth failure. Additional manifestations include premature skeletal maturation in hands, feet, and elbows and some, less constant, abnormalities of spine, mandible, and skull. Hypogenitalism, middle ear infections, and an abundance of pigmented nevi may represent occasional manifestations. The condition is usually recognized at birth or during the first year. The deformities are slowly progressive during the growth period. Neither familial incidence nor parental consanguinity has been encountered. No biochemical defect has been demonstrated.