PT  - JOURNAL ARTICLE
AU  - Mafalda Laranjo
AU  - Márcia Marinho
AU  - Conceição Brito
AU  - Cristina Godinho
TI  - Fetal hemivertebra: a rare form of 18q deletion prenatal presentation
AID  - 10.1136/bcr-2022-251914
DP  - 2023 Feb 01
TA  - BMJ Case Reports
PG  - e251914
VI  - 16
IP  - 2
4099  - http://casereports.bmj.com/content/16/2/e251914.short
4100  - http://casereports.bmj.com/content/16/2/e251914.full
SO  - BMJ Case Reports2023 Feb 01; 16
AB  - 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.