Abstract
Abstract Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.