• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

一名发育迟缓男孩患有隐睾症、小阴茎和临床无眼癫痫。

Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.

作者信息

Izumiya K, Nakada T

机构信息

Department of Urology, Yamagata University School of Medicine, Japan.

出版信息

Int Urol Nephrol. 1996;28(1):103-8. doi: 10.1007/BF02550146.

DOI:10.1007/BF02550146
PMID:8738628
Abstract

A boy was found to have bilateral anophthalmia at birth. General health examination revealed cryptorchidism and micropenis. Physical and mental retardation in addition to epilepsy were observed. Karyotype showed 47, XY. No report has ever described such a case of dysmorphic syndrome.

摘要

一名男婴出生时被发现双眼无眼球。全身健康检查发现隐睾症和小阴茎。观察到除癫痫外还有身体和智力发育迟缓。染色体核型显示为47，XY。此前尚无关于这种畸形综合征病例的报道。

相似文献

1
Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.一名发育迟缓男孩患有隐睾症、小阴茎和临床无眼癫痫。
Int Urol Nephrol. 1996;28(1):103-8. doi: 10.1007/BF02550146.
2
Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?
Am J Med Genet. 1992 Jul 1;43(4):686-7. doi: 10.1002/ajmg.1320430406.
3
A syndrome with true anophthalmia, hand-foot defects and mental retardation.一种伴有真性无眼球、手足缺陷和智力发育迟缓的综合征。
Ophthalmic Paediatr Genet. 1984 Dec;4(3):203. doi: 10.3109/13816818409006123.
4
A syndrome with true anophthalmia, hand-foot defects and mental retardation.一种伴有真性无眼球、手足缺陷和智力发育迟缓的综合征。
Ophthalmic Paediatr Genet. 1984 Apr;4(1):19-23. doi: 10.3109/13816818409009889.
5
Cryptorchidism in mental retardation.智力迟钝中的隐睾症。
J Urol. 1984 Apr;131(4):674-6. doi: 10.1016/s0022-5347(17)50573-x.
6
A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation.一例生长激素和促性腺激素缺乏伴单侧无眼球、小阴茎、隐睾症及智力发育迟缓的病例。
Endocr J. 2002 Feb;49(1):15-20. doi: 10.1507/endocrj.49.15.
7
An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.一种罕见类型的尖头并指畸形，伴有双侧顶枕部“脑膨出”、小阴茎和严重智力障碍。
Am J Med Genet. 1990 Jul;36(3):265-8. doi: 10.1002/ajmg.1320360302.
8
Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome?先天性肺气肿、隐睾症、阴茎阴囊蹼、耳聋和智力迟钝——一种新综合征？
Clin Dysmorphol. 1997 Jan;6(1):35-7.
9
Mental retardation and unilateral anophthalmia in hemifacial microsomia.半侧颜面短小畸形中的智力发育迟缓与单侧无眼球畸形
Am J Ment Defic. 1980 Nov;85(3):315-7.
10
Anophthalmia, multiple abnormalities, and unusual karyotype.
Am J Ophthalmol. 1970 Sep;70(3):381-3. doi: 10.1016/0002-9394(70)90098-x.

本文引用的文献

1
Clinical anophthalmia.临床无眼球症
Hum Genet. 1981;57(1):115-6. doi: 10.1007/BF00271183.
2
Genetics of microphthalmos.小眼畸形的遗传学
Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580.
3
Waardenburg's recessive anophthalmia syndrome.瓦尔登堡隐性无眼综合征
Ophthalmic Paediatr Genet. 1984 Apr;4(1):13-8. doi: 10.3109/13816818409009888.
4
A syndrome with true anophthalmia, hand-foot defects and mental retardation.一种伴有真性无眼球、手足缺陷和智力发育迟缓的综合征。
Ophthalmic Paediatr Genet. 1984 Apr;4(1):19-23. doi: 10.3109/13816818409009889.
5
X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.X连锁性缺损性小眼畸形及其他先天性异常。一种类似伦兹畸形发生综合征的病症。
Am J Ophthalmol. 1971 May;71(5):1128-33. doi: 10.1016/0002-9394(71)90588-5.
6
Primary anophthalmos histological and genetic features.
Can J Ophthalmol. 1974 Jan;9(1):141-5.
7
Anophthalmos and first branchial arch defects.
Ophthalmic Paediatr Genet. 1985 Dec;6(3):169-78. doi: 10.3109/13816818509087637.
8
Cryptophthalmos and anophthalmos.隐眼畸形和无眼畸形。
Indian Pediatr. 1985 Aug;22(8):621-4.
9
Clinical anophthalmos in a family.一个家族中的临床无眼球症
Clin Genet. 1987 Sep;32(3):156-9. doi: 10.1111/j.1399-0004.1987.tb03346.x.
10
Anophthalmia in the focal dermal hypoplasia syndrome.局灶性真皮发育不全综合征中的无眼畸形
Arch Ophthalmol. 1990 Jan;108(1):96-100. doi: 10.1001/archopht.1990.01070030102038.