Acrodysostosis with 5 alpha reductase deficiency: an unusual association.

Suppr

超能文献

作者信息

Gupte G L, Kher A S, Kanade S P, Bharucha B A, Sagade S N

机构信息

Department of Pediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Bombay.

出版信息

Indian J Pediatr. 1994 May-Jun;61(3):287-90. doi: 10.1007/BF02752226.

DOI:10.1007/BF02752226

PMID:7960003

Abstract

摘要

相似文献

Acrodysostosis with 5 alpha reductase deficiency: an unusual association.

Indian J Pediatr. 1994 May-Jun;61(3):287-90. doi: 10.1007/BF02752226.

[Case of syringomyelic osteoarthropathy in a child].

Ortop Travmatol Protez. 1976 Feb(2):60-2.

5-Alpha-reductase deficiency in a Saudi "girl".一名沙特“女孩”的5-α-还原酶缺乏症

Postgrad Med J. 1995 Nov;71(841):701. doi: 10.1136/pgmj.71.841.701.

Steroid 5 alpha-reductase deficiency and posterior urethral valves.类固醇5α-还原酶缺乏症与后尿道瓣膜

Horm Res. 1986;23(4):213-4. doi: 10.1159/000180326.

[17 alpha-hydroxylase deficiency and 5 alpha-reductase deficiency].

Nihon Rinsho. 1979 Jun 10;37(6):1253-9.

A late sex reassignment in 5-alpha reductase deficiency: case report.5α还原酶缺乏症的迟发性性别重新分配：病例报告。

Int J Psychiatry Med. 2003;33(2):189-93. doi: 10.2190/2HTD-A24D-9K0M-0X4L.

5 alpha-reductase deficiency: an infrequent cause of male pseudohermaphroditism.5α-还原酶缺乏症：男性假两性畸形的罕见病因。

Acta Clin Belg. 1985;40(4):240-6. doi: 10.1080/22953337.1985.11719086.

Dermochondral corneal dystrophy (of François).（弗朗索瓦氏）皮肤软骨角膜营养不良

Br J Ophthalmol. 1992 Dec;76(12):760-1. doi: 10.1136/bjo.76.12.760.

Acro-osteolysis and symphalangism mutations.肢端骨质溶解症和指/趾关节融合症突变

J Bone Miner Res. 2005 Jan;20(1):159; author reply 160. doi: 10.1359/JBMR.041023.

5-alpha-Reductase deficiency causing male pseudohermaphroditism.5-α还原酶缺乏导致男性假两性畸形。

Arch Dis Child. 1978 Sep;53(9):751-3. doi: 10.1136/adc.53.9.751.

引用本文的文献

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.新型进行性肢端骨发育不良样骨骼发育不良、小脑萎缩和鱼鳞病。

Am J Med Genet A. 2020 Oct;182(10):2214-2221. doi: 10.1002/ajmg.a.61782. Epub 2020 Aug 11.

本文引用的文献

Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.肢端发育不全症。一种外周性骨发育不全、鼻发育不全和智力迟钝的综合征。

Am J Dis Child. 1971 Mar;121(3):195-203.

[Acrodysostosis].[肢端发育不全症]

Presse Med (1893). 1968 Nov 27;76(46):2189-92.

Acrodysostosis syndrome.肢端发育不全综合征

Indian J Pediatr. 1987 Mar-Apr;54(2):271-3. doi: 10.1007/BF02750824.

Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.肢端发育不全症：一名13岁男孩的病例报告及文献复习与掌指骨模式轮廓分析

Am J Med Genet. 1988 Aug;30(4):971-80. doi: 10.1002/ajmg.1320300416.

Epiphyseal stippling in acrodysostosis.

Am J Med Genet. 1991 Jan;38(1):43-5. doi: 10.1002/ajmg.1320380111.

Acrodysostosis in two generations: an autosomal dominant syndrome.

Clin Genet. 1991 May;39(5):376-82. doi: 10.1111/j.1399-0004.1991.tb03045.x.

Intersex disorders: an approach to surgical management.

Indian J Pediatr. 1992 Jul-Aug;59(4):523-30. doi: 10.1007/BF02751570.

Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease.肢端发育异常、外周性骨发育不全、肢端骨发育不全和蒂曼氏病。

Clin Orthop Relat Res. 1976 Jan-Feb(114):107-15.

5-alpha-Reductase deficiency causing male pseudohermaphroditism.5-α还原酶缺乏导致男性假两性畸形。

Arch Dis Child. 1978 Sep;53(9):751-3. doi: 10.1136/adc.53.9.751.

Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings.日本同胞中出现的一种伴有智力发育迟缓、鼻发育不全、外周性骨发育异常和蓝眼睛的综合征的家族性发病情况。

Hum Genet. 1978 Jun 9;42(2):227-32. doi: 10.1007/BF00283643.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验