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胎儿半椎体:一种罕见的 18q 缺失产前表现形式。

Fetal hemivertebra: a rare form of 18q deletion prenatal presentation.

机构信息

Gynecology and Obstetrics, Hospital Pedro Hispano, Matosinhos, Portugal

Gynecology and Obstetrics, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal.

出版信息

BMJ Case Rep. 2023 Feb 10;16(2):e251914. doi: 10.1136/bcr-2022-251914.

Abstract

The 18q deletion is a rare condition with several described features. A common phenotype includes short stature, microcephaly, facial defects, small feet, intellectual disability and hypotonia.We present a rare case of a fetus with del18q22.1q23 whose diagnosis was obtained by amniocentesis after a routine ultrasound at 20 weeks, where a hemivertebra was detected.Congenital hemivertebra is infrequent and is rarely associated with chromosomal anomalies. Expectant management can be advocated in isolated hemivertebra. This report shows that a hemivertebra can be an isolated prenatal finding in del18 so it is important to screen for, and exclude, chromosomal anomalies.

摘要

18q 缺失是一种罕见的疾病,具有多种已描述的特征。一个常见的表型包括身材矮小、小头畸形、面部缺陷、小足、智力障碍和低张力。我们报告了一例罕见的胎儿 del18q22.1q23,其诊断是在 20 周常规超声检查后通过羊膜穿刺术获得的,在该检查中发现了半椎体。先天性半椎体并不常见,很少与染色体异常相关。在孤立性半椎体中可以提倡期待治疗。本报告表明,半椎体在 del18 中可以是孤立的产前表现,因此筛查和排除染色体异常非常重要。

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Chromosomal deletions detected at amniocentesis.羊膜穿刺术检测到的染色体缺失。
Taiwan J Obstet Gynecol. 2014 Mar;53(1):62-7. doi: 10.1016/j.tjog.2013.02.003.

本文引用的文献

1
Fetal hemivertebra: associations and perinatal outcome.胎儿半椎体:相关因素和围产儿结局。
Ultrasound Obstet Gynecol. 2015 Apr;45(4):434-8. doi: 10.1002/uog.13401.
6
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.42例18q染色体缺失患者的先天性异常及人体测量学研究
Am J Med Genet. 1999 Aug 27;85(5):455-62. doi: 10.1002/(sici)1096-8628(19990827)85:5<455::aid-ajmg5>3.0.co;2-z.
8
18q- syndrome in mother and daughter.母女均患18号染色体长臂缺失综合征。
Eur J Pediatr. 1979 Mar 1;130(3):189-92. doi: 10.1007/BF00455265.

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