梅克尔-格鲁伯综合征：超声检查与胎儿尸检的相关性
Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
作者信息
Khurana Shruti, Saini Vikram, Wadhwa Vibhor, Kaur Harveen
机构信息
Department of Gastroenterology, Hepatology and Nutrition, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.
Center for Tuberculosis Research, Johns Hopkins University School of Medicine, Baltimore, MD USA.
出版信息
J Ultrasound. 2017 Jan 4;20(2):167-170. doi: 10.1007/s40477-016-0231-4. eCollection 2017 Jun.
Abstract
Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.
摘要
梅克尔-格鲁伯综合征（MGS）是一种罕见的常染色体隐性疾病，其特征为枕部脑膨出、多囊肾和轴后多指（趾）畸形的经典三联征。我们描述了一例经超声检查和基因分析诊断为经典型MGS的病例，随后通过胎儿尸检得以证实并建立关联。
相似文献
1
Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
J Ultrasound. 2017 Jan 4;20(2):167-170. doi: 10.1007/s40477-016-0231-4. eCollection 2017 Jun.
2
Meckel Gruber syndrome, A case report.
Organogenesis. 2015;11(2):87-92. doi: 10.1080/15476278.2015.1055431. Epub 2015 Jun 2.
3
[Meckel Gruber syndrome: about a rare case].
Pan Afr Med J. 2016 Sep 29;25:43. doi: 10.11604/pamj.2016.25.43.9696. eCollection 2016.
4
Meckel-Gruber syndrome: a rare clinical entity.
J Indian Med Assoc. 2010 Sep;108(9):611-2.
5
Meckel-Gruber Syndrome: A Case Who Lived for 5 Months.
Pediatr Neurosurg. 2019;54(4):277-280. doi: 10.1159/000500766. Epub 2019 Jul 1.
6
Fetal autopsy of Meckel Gruber syndrome -a case report.
Fetal Pediatr Pathol. 2013 Oct;32(5):387-93. doi: 10.3109/15513815.2013.768741. Epub 2013 Feb 27.
7
Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.
Am J Obstet Gynecol. 1997 Feb;176(2):316-9. doi: 10.1016/s0002-9378(97)70491-5.
8
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Pediatr Nephrol. 2017 Oct;32(10):1989-1992. doi: 10.1007/s00467-017-3710-8. Epub 2017 Jun 15.
9
First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.
Ultrasound Obstet Gynecol. 2014 Dec;44(6):719-21. doi: 10.1002/uog.13381. Epub 2014 Oct 27.
10
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
J Matern Fetal Neonatal Med. 2016;29(12):2013-6. doi: 10.3109/14767058.2015.1072162. Epub 2015 Aug 26.
引用本文的文献
1
Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
Diagnostics (Basel). 2025 Jan 17;15(2):202. doi: 10.3390/diagnostics15020202.
本文引用的文献
1
Meckel gruber syndrome: report of two cases with review of literature.
J Family Med Prim Care. 2013 Jan;2(1):106-8. doi: 10.4103/2249-4863.109971.
2
Meckel gruber syndrome.
J Clin Diagn Res. 2013 Sep;7(9):2102-3. doi: 10.7860/JCDR/2013/5946.3421. Epub 2013 Sep 10.
3
Fetal autopsy of Meckel Gruber syndrome -a case report.
Fetal Pediatr Pathol. 2013 Oct;32(5):387-93. doi: 10.3109/15513815.2013.768741. Epub 2013 Feb 27.
4
Meckel-Gruber syndrome: Report of two cases.
J Neurosci Rural Pract. 2012 Jan;3(1):56-9. doi: 10.4103/0976-3147.91943.
5
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Hum Mutat. 2007 Jun;28(6):638-9. doi: 10.1002/humu.9496.
6
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X.
7
Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.
Arch Pathol Lab Med. 2006 Aug;130(8):1236-8. doi: 10.5858/2006-130-1236-MS.
8
Meckel-Grüber syndrome: sonography and pathology.
Ultrasound Obstet Gynecol. 2006 Mar;27(3):296-300. doi: 10.1002/uog.2708.
9
Integration of imaging and pathological studies in Meckel-Gruber syndrome.
Prenat Diagn. 2005 Mar;25(3):267-8. doi: 10.1002/pd.1111.
10
Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly.
Pediatr Dev Pathol. 2000 Nov-Dec;3(6):568-83. doi: 10.1007/s100240010104.
Zotero 插件