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[Ichthyosis congenita, cataract, mental retardation, ataxia, osteosclerosis and immunologic deficiency--a particular syndrome?].

作者信息

Leupold D

出版信息

Monatsschr Kinderheilkd (1902). 1979 May;127(5):307-8.

PMID:460235
Abstract
摘要

相似文献

1
[Ichthyosis congenita, cataract, mental retardation, ataxia, osteosclerosis and immunologic deficiency--a particular syndrome?].先天性鱼鳞病、白内障、智力发育迟缓、共济失调、骨硬化和免疫缺陷——一种特殊综合征?
Monatsschr Kinderheilkd (1902). 1979 May;127(5):307-8.
2
Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome.先天性鱼鳞病、智力发育迟缓、侏儒症和肾功能损害:一种新综合征。
Clin Genet. 1975 Jul;8(1):59-65. doi: 10.1111/j.1399-0004.1975.tb01955.x.
3
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.
4
[Rare syndrome: hereditary ataxia with congenital cataract and mental retardation].
Confin Neurol. 1956;16(4-5):271-5.
5
MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.智力迟钝:诊断方法及一些最近描述的综合征
Can Med Assoc J. 1963 Nov 16;89(20):1024-9.
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
Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.
J Am Acad Dermatol. 1980 Apr;2(4):309-17. doi: 10.1016/s0190-9622(80)80043-0.
8
[On the syndrome: ichthyosis congenita, feeblemindedness and spastic disorders of the type of Little's disease].[论先天性鱼鳞病、智力低下及类利特尔病型痉挛性疾病综合征]
Hautarzt. 1959 Sep;10:403-8.
9
[Rud's syndrome].[鲁德综合征]
Pediatriia. 1981 May(5):72.
10
[Ichthyosis, spastic diplegia of lower extremities and oligophrenia; a syndrome].
Nord Med. 1957 Apr 25;57(17):624-5.

引用本文的文献

1
Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice.早衰的DNA修复缺陷型毛发硫营养不良小鼠的骨脆性和干细胞减少
Age (Dordr). 2012 Aug;34(4):845-61. doi: 10.1007/s11357-011-9291-8. Epub 2011 Aug 4.
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
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.
4
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.患有光敏感型毛发硫营养不良的患者存在着色性干皮病(互补组D)突变。
Hum Genet. 1986 Oct;74(2):107-12. doi: 10.1007/BF00282072.
5
Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.无光敏性的毛发硫营养不良。生化、超微结构及DNA修复研究。
Eur J Pediatr. 1988 May;147(4):439-41. doi: 10.1007/BF00496431.
6
The trichothiodystrophy syndrome of Pollitt.波利特毛发硫营养不良综合征
Pediatr Radiol. 1988;18(2):154-6. doi: 10.1007/BF02387560.
7
Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.
Hum Genet. 1988 Jan;78(1):106-8. doi: 10.1007/BF00291250.