伊韦马克综合征在同胞中伴有脾发育不全和无脾的家族性发生情况。
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs.
作者信息
Simpson J, Zellweger H
出版信息
J Med Genet. 1973 Sep;10(3):303-4. doi: 10.1136/jmg.10.3.303.
Abstract
Two sibs with Ivemark syndrome are described. This is the fourth observation of familial Ivemark syndrome, while over 200 cases reported in the literature have been sporadic. One of the affected sibs reported here had total absence of the spleen, while a hypoplastic spleen was found in the other sib. The occurrence of splenic aplasia and splenic hypoplasia in the same family would be in support of the unitary concept of Ivemark syndrome. Contrary to previous concepts, Ivemark syndrome with splenic hypoplasia and Ivemark syndrome with splenic aplasia represent variants of one and the same disease entity.
摘要
本文描述了两名患有伊韦马克综合征的同胞。这是家族性伊韦马克综合征的第四例观察报告，而文献中报道的200多例病例均为散发性。此处报告的一名患病同胞脾脏完全缺失，而另一名同胞则发现脾脏发育不全。同一家族中出现脾发育不全和脾发育不良支持了伊韦马克综合征的单一概念。与先前的概念相反，伴有脾发育不良的伊韦马克综合征和伴有脾发育不全的伊韦马克综合征是同一疾病实体的不同变体。
相似文献
1
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs.伊韦马克综合征在同胞中伴有脾发育不全和无脾的家族性发生情况。
J Med Genet. 1973 Sep;10(3):303-4. doi: 10.1136/jmg.10.3.303.
2
[Simultaneous occurrence of Ivemark syndrome and diprosopus].[伊维马克综合征与双面畸形同时发生]
Orv Hetil. 1980 Dec 14;121(50):3095.
3
Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family.阿米什家族中多脾、内脏反位和心脏缺陷可能的常染色体隐性遗传。
Am J Med Genet. 1983 Sep;16(1):35-42. doi: 10.1002/ajmg.1320160107.
4
Interrupted inferior vena cava in asplenia syndrome and a review of the hereditary patterns of visceral situs abnormalities.无脾综合征中的下腔静脉中断及内脏位置异常遗传模式的综述
Am J Cardiol. 1998 Jan 1;81(1):111-6. doi: 10.1016/s0002-9149(97)00811-4.
5
Defects in laterality with emphasis on heterotaxy syndromes with asplenia and polysplenia: an autopsy case series at a single institution.以无脾和多脾的内脏反位综合征为重点的内脏左右不对称缺陷：单机构尸检病例系列
Pediatr Dev Pathol. 2014 Jul-Aug;17(4):250-64. doi: 10.2350/13-11-1406-OA.1. Epub 2014 Apr 15.
6
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship.同胞关系中存在定位异常的无脾和多脾综合征。
J Med Genet. 1981 Aug;18(4):301-2. doi: 10.1136/jmg.18.4.301.
7
X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects.
Am J Med Genet. 1987 Sep;28(1):111-6. doi: 10.1002/ajmg.1320280116.
8
Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings.
Eur J Pediatr. 1994 Oct;153(10):712-4. doi: 10.1007/BF01954484.
9
Ivemark syndrome in siblings.兄弟姐妹中的艾维马克综合征。
Clin Genet. 1982 Jul;22(1):7-11. doi: 10.1111/j.1399-0004.1982.tb01402.x.
10
Ivemark syndrome with agenesis of the corpus callosum: a case report with a review of the literature.艾维马克综合征合并胼胝体发育不全：一例病例报告并文献复习
Prenat Diagn. 2002 Nov;22(11):1011-5. doi: 10.1002/pd.458.
引用本文的文献
1
MDCT Findings of Splenic Pathology.脾脏病变的 MDCT 表现。
Curr Probl Diagn Radiol. 2022 Mar-Apr;51(2):262-269. doi: 10.1067/j.cpradiol.2020.12.004. Epub 2021 Jan 9.
2
Ivemark syndrome: bronchial compression from anomalous pulmonary venous anatomy.艾维马克综合征：异常肺静脉解剖结构导致的支气管受压。
J Surg Case Rep. 2017 Mar 17;2017(3):rjx045. doi: 10.1093/jscr/rjx045. eCollection 2017 Mar.
3
Prenatal diagnosis of atrial isomerism in the Korean population.韩国人群中心房异构的产前诊断。
Obstet Gynecol Sci. 2014 May;57(3):193-200. doi: 10.5468/ogs.2014.57.3.193. Epub 2014 May 15.
4
Familial isolated congenital asplenia: case report and literature review.家族性孤立性先天性脾缺如：病例报告及文献复习。
Eur J Pediatr. 2010 Mar;169(3):315-8. doi: 10.1007/s00431-009-1030-0. Epub 2009 Jul 19.
5
Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.4号缺失环状染色体所致的无肢畸形、右位心、无脾及先天性短肠
J Med Genet. 1996 Oct;33(10):879-81. doi: 10.1136/jmg.33.10.879.
6
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship.同胞关系中存在定位异常的无脾和多脾综合征。
J Med Genet. 1981 Aug;18(4):301-2. doi: 10.1136/jmg.18.4.301.
本文引用的文献
1
2
SYNDROME OF CONGENITAL CARDIAC DISEASE WITH ASPLENIA. DISTINCTION FROM OTHER FORMS OF CONGENITAL CYANOTIC CARDIAC DISEASE.先天性心脏病伴无脾综合征。与其他形式的先天性青紫型心脏病的鉴别。
Am J Cardiol. 1964 Mar;13:387-406. doi: 10.1016/0002-9149(64)90454-0.
3
Syndrome of levocardia, multiple cardiac defects, situs inversus, and absent spleen: a case report.
Am Heart J. 1962 Jan;63:115-8. doi: 10.1016/0002-8703(62)90229-6.
4
5
Syndrome of spleen agenesis, defects of the heart and vessels and situs inversus; report of a case suggesting heredity as an etiological factor.
Helv Paediatr Acta. 1958 Dec;13(6):636-40.
6
Congenital absence of the spleen and associated anomalies.先天性无脾及相关异常。
Am J Clin Pathol. 1956 May;26(5):429-70. doi: 10.1093/ajcp/26.5.429.
7
8
[The Ivemark syndrome. 7 own cases and review of literature].
Arch Kinderheilkd. 1968 Apr;177(1):74-97.
9
Asplenia syndrome with congenital heart disease and tetralogy of Fallot in siblings.同胞中出现的无脾综合征合并先天性心脏病及法洛四联症。
Am J Cardiol. 1972 Jul 11;30(1):91-4. doi: 10.1016/0002-9149(72)90132-4.
Zotero 插件