RT Journal Article
SR Electronic
T1 Fetal hemivertebra: a rare form of 18q deletion prenatal presentation
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e251914
DO 10.1136/bcr-2022-251914
VO 16
IS 2
A1 Mafalda Laranjo
A1 Márcia Marinho
A1 Conceição Brito
A1 Cristina Godinho
YR 2023
UL http://casereports.bmj.com/content/16/2/e251914.abstract
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.