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