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泰伊综合征或IBIDS综合征。一例伴有生长发育迟缓、先天性鱼鳞病和脆发的病例。

Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.

作者信息

Blomquist H K, Bäck O, Fagerlund M, Holmgren G, Stecksén-Blicks C

机构信息

Department of Paediatrics, University Hospital, Umeå, Sweden.

出版信息

Acta Paediatr Scand. 1991 Dec;80(12):1241-5. doi: 10.1111/j.1651-2227.1991.tb11817.x.

DOI:10.1111/j.1651-2227.1991.tb11817.x
PMID:1785299
Abstract

A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle-niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature.

摘要

本文介绍了一例新的瑞典Tay或IBIDS综合征病例。该男孩有生长发育和智力迟缓、先天性鱼鳞病及脆发。他是一对叔侄与侄女婚姻中的独子。该男孩反复感染,3岁时死于肺炎。通过文献研究列出了15例病例的临床资料。

相似文献

1
Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.泰伊综合征或IBIDS综合征。一例伴有生长发育迟缓、先天性鱼鳞病和脆发的病例。
Acta Paediatr Scand. 1991 Dec;80(12):1241-5. doi: 10.1111/j.1651-2227.1991.tb11817.x.
2
XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation.一名患有鱼鳞病、性腺功能减退、身材矮小和智力发育迟缓男孩的XY易位。
Clin Genet. 1991 Feb;39(2):156-8. doi: 10.1111/j.1399-0004.1991.tb03004.x.
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[Trichothiodystrophy: progresssive manifestations].[毛发硫营养不良:进行性表现]
Ann Dermatol Venereol. 1999 Oct;126(10):703-7.
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Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome).鱼鳞病、脆发、智力受损、生育力下降和身材矮小(IBIDS综合征)。
Br J Dermatol. 1982 Jun;106(6):705-10. doi: 10.1111/j.1365-2133.1982.tb11687.x.
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The Tay syndrome (congenital ichthyosis with trichothiodystrophy).泰伊综合征(先天性鱼鳞病伴毛发硫营养不良)。
Eur J Pediatr. 1984 Jan;141(3):147-52. doi: 10.1007/BF00443212.
6
[Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings].
Hautarzt. 1981 Feb;32(2):67-74.
7
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome.伴有脱发、唇外翻、睑外翻及智力发育迟缓的先天性鱼鳞病——一种新的遗传综合征。
Clin Genet. 1987 Feb;31(2):102-8. doi: 10.1111/j.1399-0004.1987.tb02777.x.
8
A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.
J Pediatr. 1973 Mar;82(3):466-71. doi: 10.1016/s0022-3476(73)80122-2.
9
Tay syndrome.泰伊综合征
Indian J Pediatr. 2008 Mar;75(3):288-90. doi: 10.1007/s12098-008-0062-1.
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Ichthyosiform eruption in a patient with Dubowitz syndrome.一名患有杜波维茨综合征患者的鱼鳞病样皮疹。
Pediatr Dermatol. 1995 Jun;12(2):130-3. doi: 10.1111/j.1525-1470.1995.tb00138.x.

引用本文的文献

1
Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.先天性鱼鳞病的牙齿异常:病例报告及文献综述
Pediatr Dermatol. 2025 Mar-Apr;42(2):305-310. doi: 10.1111/pde.15841. Epub 2024 Dec 10.
2
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.毛发硫营养不良:对112例已发表病例的系统评价描绘了广泛的临床表现谱。
J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25.
3
Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.
Netherton综合征:一对患有严重特应性皮炎的同卵双胞胎的病例报告。
Eur J Pediatr. 2006 Sep;165(9):594-7. doi: 10.1007/s00431-006-0141-0. Epub 2006 May 3.
4
Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.一名患有核苷酸切除修复缺陷和CD4淋巴细胞减少症儿童的树突状细胞成熟缺陷。
Clin Exp Immunol. 2001 Dec;126(3):511-8. doi: 10.1046/j.1365-2249.2001.01625.x.
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Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.神经外胚层(CHIME)综合征:1例新增病例及所有报告病例的长期随访
J Med Genet. 1995 Jun;32(6):465-9. doi: 10.1136/jmg.32.6.465.