• 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

宫内生长迟缓。两例具有鸟头外观、骨骼改变及外周生长激素抵抗病例报告。

Intrauterine growth retardation. A report of two cases with bird-headed appearance, skeletal changes and peripheral GH resistance.

作者信息

Boscherini B, Iannaccone G, La Cauza C, Mancuso G, Girotti F, Finocchi G, Pasquino A M

出版信息

Eur J Pediatr. 1981 Oct;137(2):237-42. doi: 10.1007/BF00441325.

DOI:10.1007/BF00441325
PMID:7198044
Abstract

Two cases of severe intrauterine growth retardation, a boy and a girl studied for 7 and 10 years respectively, are reported. Both patients showed peculiar cranio-facial abnormalities as observed in the so-called Seckel's syndrome, an appearance of premature aging, peripheral GH resistance which was probably due to deficiency in Somatomedin A production, sella areas and volumes consistently at the upper limits of normal when related to the patients' height, and dysharmonic skeletal maturation ivory cone-shaped epiphyses of the tubular bones of the hands.

摘要

报告了两例严重宫内生长迟缓病例,分别是一名男孩和一名女孩,研究时间分别为7年和10年。两名患者均表现出在所谓的塞克尔综合征中观察到的特殊颅面异常、早衰外观、外周生长激素抵抗(这可能是由于生长调节素A产生不足所致)、与患者身高相关时蝶鞍面积和体积始终处于正常上限,以及手部管状骨的骨骺呈不协调的骨骼成熟象牙锥形。

相似文献

1
Intrauterine growth retardation. A report of two cases with bird-headed appearance, skeletal changes and peripheral GH resistance.宫内生长迟缓。两例具有鸟头外观、骨骼改变及外周生长激素抵抗病例报告。
Eur J Pediatr. 1981 Oct;137(2):237-42. doi: 10.1007/BF00441325.
2
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism).
Pediatr Radiol. 1983;13(1):19-24. doi: 10.1007/BF00975661.
3
Endogenous and stimulated GH secretion, urinary GH excretion, and plasma IGF-I and IGF-II levels in prepubertal children with short stature after intrauterine growth retardation. The Dutch Working Group on Growth Hormone.宫内生长迟缓后身材矮小的青春期前儿童的内源性和刺激后的生长激素分泌、尿生长激素排泄以及血浆胰岛素样生长因子-I和胰岛素样生长因子-II水平。荷兰生长激素工作组。
Clin Endocrinol (Oxf). 1994 Nov;41(5):621-30. doi: 10.1111/j.1365-2265.1994.tb01828.x.
4
Cranio-carpo-tarsal dysplasia. A report of seven cases.颅腕跗骨发育异常。7例报告。
Radiology. 1977 Jun;123(3):719-22. doi: 10.1148/123.3.719.
5
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
Cleft Palate Craniofac J. 2001 Nov;38(6):645-51. doi: 10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2.
6
[Seckel's syndrome: a form of chondrodysplasia? (author's transl)].塞克尔综合征:软骨发育不良的一种形式?(作者译)
An Esp Pediatr. 1982 May;16(5):406-15.
7
Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.小头畸形、小颌畸形和鸟头样侏儒症:类塞克尔综合征的产前诊断
Am J Med Genet. 1987 May;27(1):183-8. doi: 10.1002/ajmg.1320270119.
8
Growth hormone release in response to human pancreatic tumor growth hormone-releasing hormone-40 in children with short stature.身材矮小儿童对人胰腺肿瘤生长激素释放激素-40的生长激素释放反应。
J Clin Endocrinol Metab. 1984 Oct;59(4):580-6. doi: 10.1210/jcem-59-4-580.
9
Hand radiographic measurements in growth hormone deficiency before and after treatment.生长激素缺乏症患者治疗前后手部X线测量
AJR Am J Roentgenol. 1977 Sep;129(3):487-92. doi: 10.2214/ajr.129.3.487.
10
[Russel-Silver syndrome].
An Esp Pediatr. 2001 Jun;54(6):591-4.

引用本文的文献

1
Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.中枢神经系统血管病与 Seckel 综合征:病例举例与系统综述。
Childs Nerv Syst. 2021 Dec;37(12):3847-3860. doi: 10.1007/s00381-021-05284-8. Epub 2021 Aug 3.
2
Intrauterine programming of ageing.衰老的宫内编程。
EMBO Rep. 2010 Jan;11(1):32-6. doi: 10.1038/embor.2009.262. Epub 2009 Dec 11.
3
A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging.ATR-塞克尔综合征的小鼠模型表现出胚胎复制应激和加速衰老。

本文引用的文献

1
Progeroid syndrome; report of a case of pseudo-senilism.早老样综合征;一例假性衰老病例报告。
Pediatrics. 1955 Apr;15(4):413-23.
2
THE SMALL SELLA TURCICA.
Am J Roentgenol Radium Ther Nucl Med. 1964 May;91:996-1008.
3
INTRAUTERINE GROWTH RETARDATION VERSUS SILVER'S SYNDROME.宫内生长迟缓与西尔弗综合征
J Pediatr. 1964 Feb;64:234-40. doi: 10.1016/s0022-3476(64)80267-5.
Nat Genet. 2009 Aug;41(8):891-8. doi: 10.1038/ng.420. Epub 2009 Jul 20.
4
Deletion of the developmentally essential gene ATR in adult mice leads to age-related phenotypes and stem cell loss.在成年小鼠中删除发育必需基因ATR会导致与年龄相关的表型和干细胞丢失。
Cell Stem Cell. 2007 Jun 7;1(1):113-126. doi: 10.1016/j.stem.2007.03.002.
5
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism).
Pediatr Radiol. 1983;13(1):19-24. doi: 10.1007/BF00975661.
6
Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation.
Acta Neuropathol. 1987;74(4):397-401. doi: 10.1007/BF00687219.
4
The width (third dimension) of the sella turcica.
Am J Roentgenol Radium Ther Nucl Med. 1960 Jul;84:26-37.
5
Effect of growth hormone on plasma fatty acids.生长激素对血浆脂肪酸的影响。
J Clin Invest. 1959 Mar;38(3):484-8. doi: 10.1172/JCI103824.
6
Roentgen standards fo-size of the pituitary fossa from infancy through adolescence.从婴儿期到青春期垂体窝大小的伦琴标准。
Am J Roentgenol Radium Ther Nucl Med. 1957 Sep;78(3):451-60.
7
Depressed serum somatomedin activity in beta-thalassemia.β地中海贫血患者血清生长调节素活性降低。
J Pediatr. 1980 Feb;96(2):214-8. doi: 10.1016/s0022-3476(80)80805-5.
8
Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies.
J Pediatr. 1967 May;70(5):799-804. doi: 10.1016/s0022-3476(67)80334-2.
9
The sellar index--a relationship between the area of the sella turcica and the lateral area of the skull.
Br J Radiol. 1966 Nov;39(467):824-6. doi: 10.1259/0007-1285-39-467-824.
10
The plasma sugar, free fatty acid, cortisol, and growth hormone response to insulin, and the comparison of this procedure with other tests of pituitary and adrenal function. II. In patients with hypothalamic or pituitary dysfunction or anorexia nervosa.血浆糖、游离脂肪酸、皮质醇及生长激素对胰岛素的反应,以及该检查程序与其他垂体和肾上腺功能检查的比较。II. 下丘脑或垂体功能障碍或神经性厌食症患者。
J Clin Invest. 1966 Apr;45(4):437-49. doi: 10.1172/JCI105358.