EP07.74: Multiple craniofacial anomalies associated with truncus arteriosus

Cerebellar hypoplasia is associated with chromosomal anomalies and poor neurological outcomes. It has been reported that cerebellar hypoplasia may coexist with neural migration anomalies such as lissencephaly. The coexistence of truncus arteriosus, cerebellar hypoplasia and facial anomalies is extremely rare. A 41 year-old, G3P0 pregnant woman was referred to our clinic because of multiple fetal anomalies at 21+6/7 gestational weeks. Ultrasonographic (USG) examination revealed cerebellar hypoplasia, wider sylvian fissure, increase in subarachnoid distance, micro-retrognathia, low-set malformed ears, continuous flexion of the third and fourth fingers of the hands and truncus arteriosus compatible with type 1. Additionally, while the stomach could not be observed, a single umbilical artery and polyhydramnios were detected. After the amniocentesis procedure, the pregnancy was terminated upon the request of the family. As a result of amniocentesis, fluorescence in situ hybridisation (FISH), culture and 22q11 deletion analyses were normal. The family did not request additional genetic or pathological examination. In conclusion, in such cases with multiple anomalies array-CGH and whole exome/genome sequencing following the normal karyotype analysis result. May be recommended to explain the etiopathogenesis. In addition, in cases with cerebral fissure anomaly, if the pregnancy continues, fetal MRI can be performed in the following weeks to evaluate additional intracranial pathologies, especially neural migration anomalies. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.