单纯性先天性脑积水的家族史：一项基于270名先证者的流行病学研究。
The family history of uncomplicated congenital hydrocephalus: an epidemiological study based on 270 probands.
作者信息
Lorber J
出版信息
Br Med J (Clin Res Ed). 1984 Aug 4;289(6440):281-4. doi: 10.1136/bmj.289.6440.281.
Abstract
A longitudinal study was carried out on the family history of 270 babies with uncomplicated congenital hydrocephalus. They had 453 siblings of whom five (11.1/1000) had congenital hydrocephalus and nine (19.9/1000) neural tube defects. These data, together with those obtained from previously published reports indicate that the aetiology of the two conditions is probably the same in many cases, although there are unusual exceptions in special families even apart from those with the sex linked, recessively inherited hydrocephalus.
摘要
对270例单纯性先天性脑积水患儿的家族史进行了一项纵向研究。他们有453名兄弟姐妹，其中5名（11.1/1000）患有先天性脑积水，9名（19.9/1000）患有神经管缺陷。这些数据，连同先前发表的报告中获得的数据表明，在许多情况下，这两种疾病的病因可能相同，尽管在特殊家庭中存在异常例外情况，甚至不包括那些患有性连锁隐性遗传脑积水的家庭。
相似文献
1
The family history of uncomplicated congenital hydrocephalus: an epidemiological study based on 270 probands.单纯性先天性脑积水的家族史：一项基于270名先证者的流行病学研究。
Br Med J (Clin Res Ed). 1984 Aug 4;289(6440):281-4. doi: 10.1136/bmj.289.6440.281.
2
The family history of "simple" congenital hydrocephalus. An epidemiological study based on 270 probands.“单纯性”先天性脑积水的家族史。一项基于270名先证者的流行病学研究。
Z Kinderchir. 1984 Dec;39 Suppl 2:94-5. doi: 10.1055/s-2008-1044293.
3
Letter: Twinning and neural-tube defects.
Lancet. 1974 Oct 19;2(7886):964-5. doi: 10.1016/s0140-6736(74)91185-4.
4
Family study of congenital hydrocephalus.
Dev Med Child Neurol. 1982 Aug;24(4):493-8. doi: 10.1111/j.1469-8749.1982.tb13655.x.
5
Genetic aspects of "uncomplicated" hydrocephalus and its relationship to neural tube defect.“单纯性”脑积水的遗传学方面及其与神经管缺陷的关系。
Z Kinderchir. 1984 Dec;39 Suppl 2:96-9. doi: 10.1055/s-2008-1044294.
6
Etiologic heterogeneity of neural-tube defects.神经管缺陷的病因异质性。
N Engl J Med. 1976 Feb 12;294(7):365-9. doi: 10.1056/NEJM197602122940704.
7
Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.印度北部一家三级护理中心神经管缺陷婴儿的临床流行病学特征和结局。
J Matern Fetal Neonatal Med. 2022 Dec;35(25):7052-7057. doi: 10.1080/14767058.2021.1937102. Epub 2021 Jun 13.
8
[Incidence of spina bifida occulta in relatives of children with myelodysplasia. Indications for high-risk screening].[脊髓发育不良患儿亲属中隐性脊柱裂的发病率。高危筛查的指征]
Zentralbl Gynakol. 1985;107(13):821-6.
9
[Sex ratio in myelocele and anencephaly].[脊髓脊膜膨出和无脑儿中的性别比例]
Genetika. 1982 Jul;18(7):1161-3.
10
"Isolated" hydrocephalus in families of spina bifida and anencephaly: a coincidence?脊柱裂和无脑儿家族中的“孤立性”脑积水：是巧合吗？
Neuropediatrics. 1989 Nov;20(4):220-2. doi: 10.1055/s-2008-1071297.
引用本文的文献
1
Profound changes in cerebrospinal fluid proteome and metabolic profile are associated with congenital hydrocephalus.脑脊液蛋白质组和代谢谱的深刻变化与先天性脑积水有关。
J Cereb Blood Flow Metab. 2021 Dec;41(12):3400-3414. doi: 10.1177/0271678X211039612. Epub 2021 Aug 20.
2
Genetic loci for ventricular dilatation in the LEW/Jms rat with fetal-onset hydrocephalus are influenced by gender and genetic background.患有胎儿期脑积水的LEW/Jms大鼠心室扩张的基因位点受性别和遗传背景影响。
Cerebrospinal Fluid Res. 2005 Jun 12;2:2. doi: 10.1186/1743-8454-2-2.
3
Prevention of congenital abnormalities by periconceptional multivitamin supplementation.孕前补充多种维生素预防先天性异常
BMJ. 1993 Jun 19;306(6893):1645-8. doi: 10.1136/bmj.306.6893.1645.
4
Neuropathology of congenital hydrocephalus in the SUMS/NP mouse.SUMS/NP小鼠先天性脑积水的神经病理学
Acta Neurochir (Wien). 1988;92(1-4):118-22. doi: 10.1007/BF01401981.
本文引用的文献
1
Congenital malformations of the central nervous system; maternal reproductive history and familial incidence.中枢神经系统先天性畸形；母亲生育史及家族发病率。
Br J Soc Med. 1950 Jan;4(1):26-50. doi: 10.1136/jech.4.1.26.
2
THE FAMILY HISTORY OF SPINA BIFIDA CYSTICA.脊柱裂囊肿的家族史。
Pediatrics. 1965 Apr;35:589-95.
3
The syndrome of sex-linked hydrocephalus.性连锁脑积水综合征
Arch Dis Child. 1961 Oct;36(189):486-93. doi: 10.1136/adc.36.189.486.
4
[The etiology of congenital hydrocephalus with regard to a case of concordant hydrocephalus in monozygotic twins].
J Genet Hum. 1953 Dec;2(3-4):157-202.
5
Anencephalus, spina bifida, and hydrocephalus incidence related to sex, race, and season of birth, and incidence in siblings.无脑儿、脊柱裂和脑积水的发病率与性别、种族、出生季节以及同胞发病率的关系。
Br J Prev Soc Med. 1953 Oct;7(4):211-9. doi: 10.1136/jech.7.4.211.
6
7
A family study of hydrocephalus resulting from aqueduct stenosis.一项关于导水管狭窄导致脑积水的家族研究。
J Med Genet. 1981 Aug;18(4):252-5. doi: 10.1136/jmg.18.4.252.
8
Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: aetiology and management.神经管缺陷患儿出生后两次妊娠中的先天性脑积水：病因及处理
J Med Genet. 1981 Apr;18(2):105-7. doi: 10.1136/jmg.18.2.105.
9
Family study of congenital hydrocephalus.
Dev Med Child Neurol. 1982 Aug;24(4):493-8. doi: 10.1111/j.1469-8749.1982.tb13655.x.
10
Further experience of vitamin supplementation for prevention of neural tube defect recurrences.维生素补充剂预防神经管缺陷复发的进一步经验
Lancet. 1983 May 7;1(8332):1027-31. doi: 10.1016/s0140-6736(83)92654-5.
Zotero 插件