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中华医学超声杂志(电子版) ›› 2023, Vol. 20 ›› Issue (05) : 542 -547. doi: 10.3877/cma.j.issn.1672-6448.2023.05.013

综述

尾退化综合征的产前诊断及研究进展
罗丹丹, 文华轩, 李胜利()   
  1. 518028 南方医科大学附属深圳妇幼保健院超声科
  • 收稿日期:2022-03-07 出版日期:2023-05-01
  • 通信作者: 李胜利
  • 基金资助:
    国家重点研发计划项目(2022YFF0606301); 深圳市科技计划项目(JCYJ2021324130812035,JCYJ20220530155208018)

Prenatal diagnosis and research progress of caudal regression syndrome

Dandan Luo, Huaxuan Wen, Shengli Li()   

  • Received:2022-03-07 Published:2023-05-01
  • Corresponding author: Shengli Li
引用本文:

罗丹丹, 文华轩, 李胜利. 尾退化综合征的产前诊断及研究进展[J]. 中华医学超声杂志(电子版), 2023, 20(05): 542-547.

Dandan Luo, Huaxuan Wen, Shengli Li. Prenatal diagnosis and research progress of caudal regression syndrome[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(05): 542-547.

图1 尾退化综合征尾侧椎体异常的分型(来源于Pang10)。Ⅰ型:骶尾椎完全缺如伴部分腰椎缺如,ⅠW,髂骨与最低椎体的两侧形成关节,骨盆横径基本正常,ⅠN,髂骨在最低椎体下方融合或连接,骨盆横径明显缩短;Ⅱ型:骶尾椎完全缺如,腰椎不受累,ⅡW,髂骨与L5椎体的两侧形成关节,骨盆横径基本正常,ⅡN,髂骨在L5椎体下方融合或连接,骨盆横径明显缩短;Ⅲ型:部分骶椎缺如,至少第1骶椎存在,尾侧骶椎可缺如1~4个,髂骨与尚存的骶椎两侧形成关节,骨盆横径基本正常;Ⅳ型:半侧骶椎缺如,ⅣA,所有骶椎半侧缺如,仅一侧可显示,对侧缺如,ⅣB,单侧骶椎部分缺如,一侧骶椎完整,对侧骶椎部分缺如;ⅣC,双侧骶椎部分缺如,两侧骶椎均缺如,但程度不同;Ⅴ型:尾椎缺如,ⅤA,尾椎完全缺如,ⅤB,尾椎部分缺如。其中:W表示骨盆横径正常,N表示骨盆横径缩短;其中N型均伴有骨盆不稳定;ⅣA伴有重度脊柱侧弯畸形
图2~7 尾退化综合征胎儿产前超声图像及产后标本图。图2:Pang分型Ⅰ型,超声图像表现为第2腰椎以下椎体缺如;图3:Pang分型Ⅲ型,超声图像表现为第3骶椎以下椎体缺如;图4:Pang分型Ⅳ型,超声图像表现为骶椎排列紊乱,大小不等;图5:Pang分型Ⅴ型,表现为骶椎完整,尾椎缺如;图6:三维超声显示“佛腿”样改变;图7:产后胎儿显示双下肢盘曲呈佛腿样注:T12为第12胸椎;L4为第4腰椎;S1~S5分别代表第1骶骨至第5骶骨;FOOT为胎足
1
Kylat RI, Bader M. Caudal regression syndrome [J]. Children (Basel), 2020, 7(11): 211-217.
2
Hohl A. Zur pathologic des beckens, I. Das schräg-ovale becken [M]. Leipzig: Wilhelm Engelmann, 1852: 61
3
Duhamel B. From the mermaid to anal imperforation: the syndrome of caudal regression [J]. Arch Dis Child, 1961, 36(186): 152-155.
4
Aslan H, Yanik H, Celikaslan N, et al. Prenatal diagnosis of caudal regression syndrome: a case report [J]. BMC Pregnancy Childbirth, 2001, 1(1): 8.
5
Kokrdova Z. Caudal regression syndrome [J]. J Obstet Gynaecol, 2013, 33(2): 202-203.
6
Boulas MM. Recognition of caudal regression syndrome [J]. Adv Neonatal Care, 2009, 9(2): 61-69, 70-71.
7
Warner T, Scullen TA, Iwanaga J, et al. Caudal regression syndrome-a review focusing on genetic associations [J]. World Neurosurg, 2020, 138: 461-467.
8
Bashiri A, Sheizaf B, Burstein E, et al. Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks [J]. Arch Gynecol Obstet, 2009, 280(3): 505-507.
9
Wender-Ozegowska E, Wroblewska K, Zawiejska A, et al. Threshold values of maternal blood glucose in early diabetic pregnancy--prediction of fetal malformations [J]. Acta Obstet Gynecol Scand, 2005, 84(1): 17-25.
10
Pang D. Sacral agenesis and caudal spinal cord malformations [J]. Neurosurgery, 1993, 32(5): 755-778, 778-779.
11
Porsch RM, Merello E, De Marco P, et al. Sacral agenesis: a pilot whole exome sequencing and copy number study [J]. BMC Med Genet, 2016, 17(1): 98.
12
Szumska D, Pieles G, Essalmani R, et al. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5 [J]. Genes Dev, 2008, 22(11): 1465-1477.
13
Negrete LM, Chung M, Carr SR, et al. In utero diagnosis of caudal regression syndrome [J]. Radiol Case Rep, 2015, 10(1): 1049.
14
Welch JP, Aterman K. The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity [J]. Pediatr Pathol, 1984, 2(3): 313-327.
15
Subtil D, Cosson M, Houfflin V, et al. Early detection of caudal regression syndrome: specific interest and findings in three cases [J]. Eur J Obstet Gynecol Reprod Biol, 1998, 80(1): 109-112.
16
Singh SK, Singh RD, Sharma A. Caudal regression syndrome--case report and review of literature [J]. Pediatr Surg Int, 2005, 21(7): 578-581.
17
陈佩文, 陈欣林, 杨小红, 等. 尾部退化综合征产前超声诊断并文献复习 [J/CD]. 中华医学超声杂志(电子版), 2011, 8(7): 1535-1542.
18
Szumera E, Jasiewicz B, Potaczek T. Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum-case report and literature review [J]. J Spinal Cord Med, 2018, 41(4): 496-500.
19
Barkovich AJ, Raghavan N, Chuang S, et al. The wedge-shaped cord terminus: a radiographic sign of caudal regression [J]. AJNR Am J Neuroradiol, 1989, 10(6): 1223-1231.
20
Khushdil A, Ahmed Z, Lodhi MA, et al. Caudal regression syndrome with bilateral microtia [J]. J Coll Physicians Surg Pak, 2017, 27(9): S125-S126.
21
Renshaw TS. Sacral agenesis [J]. J Bone Joint Surg Am, 1978, 60(3): 373-383.
22
Ferreira C, Santos AP, Fonseca J. Currarino syndrome-a pre and post natal diagnosis correlation: case report and literature review [J]. J Matern Fetal Neonatal Med, 2022, 35(25): 5224-5226.
23
蒋吉鹏. 超声诊断胎儿尾退化综合征1例 [J]. 中国超声医学杂志, 2019, 35(10): 907.
24
Sonek JD, Gabbe SG, Landon MB, et al. Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus [J]. Am J Obstet Gynecol, 1990, 162(3): 806-808.
25
Baxi L, Warren W, Collins MH, et al. Early detection of caudal regression syndrome with transvaginal scanning [J]. Obstet Gynecol, 1990, 75(3 Pt 2): 486-489.
26
Beaumont C, Linam LE, Dajani NK. Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights [J]. Fetal Diagn Ther, 2013, 34(2): 131-132.
27
Kanagasabai K, Bhat V, Pramod GK, et al. Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up [J]. BJR Case Rep, 2017, 3(2): 20150356.
28
Loewy JA, Richards DG, Toi A. In-utero diagnosis of the caudal regression syndrome: report of three cases [J]. J Clin Ultrasound, 1987, 15(7): 469-474.
29
Charach R, Yagel S. Neonatal caudal regression syndrome [J]. Prenat Diagn, 2021, 41(11): 1475.
30
Gedikbasi A, Yararbas K, Yildirim G, et al. Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association [J]. J Clin Ultrasound, 2009, 37(8): 464-466.
31
Chen CP, Chen CY, Lin CY, et al. Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes [J]. Prenat Diagn, 2005, 25(3): 264-266.
32
Gonzalez-Quintero VH, Tolaymat L, Martin D, et al. Sonographic diagnosis of caudal regression in the first trimester of pregnancy [J]. J Ultrasound Med, 2002, 21(10): 1175-1178.
33
Fukada Y, Yasumizu T, Tsurugi Y, et al. Caudal regression syndrome detected in a fetus with increased nuchal translucency [J]. Acta Obstet Gynecol Scand, 1999, 78(7): 655-656.
34
Tortori-Donati P, Fondelli MP, Rossi A, et al. Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation [J]. AJNR Am J Neuroradiol, 1999, 20(3): 445-456.
35
盛军发, 吕国荣, 黄芳, 等. 胎儿尾端退化综合征产前超声表现1例 [J]. 临床超声医学杂志, 2021, 23(6): 422-426.
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