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一名患有45,X特纳综合征的新生儿出现胆道闭锁和丹迪-沃克畸形。

Biliary atresia and the Dandy-Walker anomaly in a neonate with 45,X Turner's syndrome.

作者信息

Molland E A, Purcell M

出版信息

J Pathol. 1975 Apr;115(4):227-30. doi: 10.1002/path.1711150407.

DOI:10.1002/path.1711150407
PMID:1159569
Abstract

A case is described of a neonate with Turner's syndrome (45,X) whose clinical course was complicated by jaundice. Autopsy findings included intraphepatic biliary atresia, coarctation of the aorta of the infantile type, and the Dandy-Walker syndrome.

摘要

本文描述了一例患有特纳综合征(45,X)的新生儿,其临床病程因黄疸而复杂化。尸检结果包括肝内胆管闭锁、婴儿型主动脉缩窄和丹迪-沃克综合征。

相似文献

1
Biliary atresia and the Dandy-Walker anomaly in a neonate with 45,X Turner's syndrome.一名患有45,X特纳综合征的新生儿出现胆道闭锁和丹迪-沃克畸形。
J Pathol. 1975 Apr;115(4):227-30. doi: 10.1002/path.1711150407.
2
Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn.与丹迪-沃克囊肿相关的鲁宾斯坦-泰比综合征。一例新生儿病例报告。
J Perinat Med. 1989;17(5):381-4.
3
[Lethal skeletal dysplasias: delineation of a new distinct entity with spondylocostal dysostosis, multiple internal abnormalities and Dandy-Walker cyst].
J Genet Hum. 1985 Sep;33(3-4):313-5.
4
Coexistence of Dandy-Walker syndrome and Down's syndrome.丹迪-沃克综合征与唐氏综合征并存。
Neurochirurgia (Stuttg). 1989 Mar;32(2):56-7. doi: 10.1055/s-2008-1054003.
5
Bilateral cystic nephroblastomas and botryoid sarcoma in a child with Dandy-Walker syndrome.一名患有丹迪-沃克综合征的儿童出现双侧囊性肾母细胞瘤和葡萄状肉瘤。
Arch Pathol Lab Med. 1986 Feb;110(2):150-2.
6
[Dandy-Walker syndrome with disjunction of the mendosal suture].[伴有孟氏缝(联合缝)分离的丹迪-沃克综合征]
Arch Fr Pediatr. 1979 Dec;36(10):1057-60.
7
[Dandy-Walker syndrome].
Zh Vopr Neirokhir Im N N Burdenko. 1981 Mar-Apr(2):51-9.
8
Trisomy 18 with multiple rare malformations: report of one case.18三体综合征伴多种罕见畸形:1例报告。
Acta Paediatr Taiwan. 2007 Sep-Oct;48(5):272-5.
9
Coarctation resection in children with Turner's syndrome: a note of caution.
J Thorac Cardiovasc Surg. 1980 Sep;80(3):427-30.
10
[XO type of Turner's syndrome associated with coarctation of aorta---case report (author's transl)].与主动脉缩窄相关的XO型特纳综合征——病例报告(作者译)
Zhonghua Xin Xue Guan Bing Za Zhi. 1980 Sep;8(3):208-9.

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Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?后颅窝畸形的最佳产前基因诊断方法:核型分析、拷贝数变异检测还是全外显子测序?
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Liver Biochemical Abnormalities in Adolescent Patients with Turner Syndrome.特纳综合征青少年患者的肝脏生化异常
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Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders.
特纳综合征与大脑的性别分化:对理解男性偏倚性神经发育障碍的启示。
J Neurodev Disord. 2011 Dec;3(4):293-306. doi: 10.1007/s11689-011-9089-0. Epub 2011 Aug 5.
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Increased liver enzymes and hormonal therapies in girls and adolescents with Turner syndrome.患有特纳综合征的女孩和青少年中肝酶升高与激素治疗
J Endocrinol Invest. 2005 Sep;28(8):720-6. doi: 10.1007/BF03347555.
5
Genetic aspects of congenital cerebellar ataxia.
Indian J Pediatr. 1986 Nov-Dec;53(6):761-73. doi: 10.1007/BF02748571.
6
Dandy-Walker malformation: analysis of 38 cases.丹迪-沃克畸形:38例分析
Childs Nerv Syst. 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863.