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Congenital trichomegaly, pigmentary retinal degeneration, and short stature.

作者信息

Patton M A, Harding A E, Baraitser M

出版信息

Am J Ophthalmol. 1986 Apr 15;101(4):490-1. doi: 10.1016/0002-9394(86)90656-2.

DOI:10.1016/0002-9394(86)90656-2
PMID:3963113
Abstract
摘要

相似文献

1
Congenital trichomegaly, pigmentary retinal degeneration, and short stature.
Am J Ophthalmol. 1986 Apr 15;101(4):490-1. doi: 10.1016/0002-9394(86)90656-2.
2
Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case.先天性睫毛粗长、视网膜色素变性和生长发育迟缓（奥利弗 - 麦克法兰综合征）：首例报告病例的28年随访
Can J Ophthalmol. 1993 Jun;28(4):191-3.
3
Trichomegaly, pigmentary degeneration of the retina, and growth retardation. A new syndrome originating in utero.
Am J Dis Child. 1971 Apr;121(4):344-5. doi: 10.1001/archpedi.1971.02100150118018.
4
CONGENITAL TRICHOMEGALY: WITH ASSOCIATED PIGMENTARY DEGENERATION OF THE RETINA, DWARFISM, AND MENTAL RETARDATION.
Arch Ophthalmol. 1965 Aug;74:169-71. doi: 10.1001/archopht.1965.00970040171008.
5
Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up.先天性睫毛粗长症（奥利弗 - 麦克法兰综合征）：一例随访9年的病例报告
Br J Ophthalmol. 2003 Jan;87(1):119-20. doi: 10.1136/bjo.87.1.119.
6
Trichomegaly in two sisters with synophrys in the older sibling.两姐妹出现睫毛粗长症，年长的姐姐还伴有连眉。
Am J Med Genet A. 2005 Aug 1;136A(4):398. doi: 10.1002/ajmg.a.30752.
7
Vitreochorioretinal degeneration associated with trichomegaly.
Ann Ophthalmol. 1976 Jul;8(7):811-5.
8
Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).
Am J Med Genet A. 2005 Oct 15;138A(3):268-71. doi: 10.1002/ajmg.a.30953.
9
Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, or a new clinical entity?
Am J Med Genet A. 2003 Jul 30;120A(3):437-8. doi: 10.1002/ajmg.a.20049.
10
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation.一名中国男孩患奥利弗 - 麦克法兰综合征：色素性视网膜炎、睫毛粗长、毛发异常及智力发育迟缓。
Ophthalmic Genet. 2015 Mar;36(1):70-4. doi: 10.3109/13816810.2013.824003. Epub 2013 Aug 19.

引用本文的文献

1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.神经病靶酯酶损伤会导致奥利弗 - 麦克法兰综合征和劳伦斯 - 穆恩综合征。
J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.
2
Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up.先天性睫毛粗长症（奥利弗 - 麦克法兰综合征）：一例随访9年的病例报告
Br J Ophthalmol. 2003 Jan;87(1):119-20. doi: 10.1136/bjo.87.1.119.
3
Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.
伴有先天性多毛症的视锥-视杆细胞先天性黑矇：一种常染色体隐性疾病。
J Med Genet. 1989 Aug;26(8):504-10. doi: 10.1136/jmg.26.8.504.