同卵双胞胎中的双侧诺里病。
Bilateral Norrie's disease in identical twins.
作者信息
Sukumaran K
机构信息
Department of Ophthalmology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
出版信息
Br J Ophthalmol. 1991 Mar;75(3):179-80. doi: 10.1136/bjo.75.3.179.
Abstract
A case of Norrie's disease in an identical twins is reported. No positive family history was obtained. The couple had no other children. The older of the twins died at the age of 9 months of uncertain cause. To the best of my knowledge this is the first case of Norrie's disease reported in Malaysia. And its occurrence in an identical twins is very rare.
摘要
本文报告了一例同卵双胞胎患诺里病的病例。未获得阳性家族史。这对夫妇没有其他孩子。双胞胎中的老大在9个月大时不明原因死亡。据我所知，这是马来西亚首例报告的诺里病病例。该病发生在同卵双胞胎中非常罕见。
相似文献
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Bilateral Norrie's disease in identical twins.同卵双胞胎中的双侧诺里病。
Br J Ophthalmol. 1991 Mar;75(3):179-80. doi: 10.1136/bjo.75.3.179.
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Am J Ophthalmol. 1980 Jul;90(1):76-80. doi: 10.1016/s0002-9394(14)75079-2.
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[Norrie's disease].
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[Norrie's disease (observation of a family)].[诺里病（一个家族的观察）]
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Norrie's disease vs. PHPV: one family's dilemma.诺里病与永存原始玻璃体增生症：一个家庭的困境。
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8
Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.可能是由突变引起的诺里病。两个同胞兄弟的散发病例，每个家族中有两名男性，对其中一例进行了尸检，并结合诺里病计算了基因突变频率。
Br J Ophthalmol. 1986 Apr;70(4):305-13. doi: 10.1136/bjo.70.4.305.
9
Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness.诺里病——一种与X染色体相关的综合征，表现为视网膜畸形、智力迟钝和耳聋。
N Engl J Med. 1971 Feb 18;284(7):367-8. doi: 10.1056/NEJM197102182840707.
10
Norrie's disease.诺里病
Birth Defects Orig Artic Ser. 1982;18(6):729-38.
引用本文的文献
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Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care.诺里病患者视力和听力丧失的影响：双感官诊所对患者护理的优势。
BMJ Paediatr Open. 2020 Nov 16;4(1):e000781. doi: 10.1136/bmjpo-2020-000781. eCollection 2020.
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Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.诺里病与X染色体鸟氨酸转氨酶的连锁分析。
Trans Am Ophthalmol Soc. 1992;90:405-79.
本文引用的文献
1
Episkopi blindness; hereditary blindness in a Greek Cypriot family.埃皮斯科皮失明症；一个希族塞人家庭中的遗传性失明症。
Br J Ophthalmol. 1959 Jun;43(6):340-4. doi: 10.1136/bjo.43.6.340.
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Norrie's disease.诺里病
Am J Ophthalmol. 1968 Aug;66(2):328-32. doi: 10.1016/0002-9394(68)92083-7.
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