EP18.01: Case report: midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip and palate

A 24-year-old woman Gravida II Para I presented at 21+6 gestational weeks for a routine second trimester scan. The fetal phenotype included cerebral abnormalities (corpus callosum agenesis, cerebellar cleft due to vermian hypoplasia, ventriculomegaly), suspected cortical developmental disorder, hypertelorism, a hypoplastic nasal bone, a small median cleft lip and palate, abnormal facial profile, as well as syndactyly of the left hand involving fourth and fifth finger. Genetic testing revealed a normal karyotype, as well as trio exome sequencing. The vaginal delivery at term was uneventful. The sonographic findings were confirmed postnatally. In addition, short fingers were noticed. The postnatal adaption was physiological except for some feeding problems. Child and mother could be discharged in healthy condition. Differential diagnoses of the given anomalies include Hartsfield Bixler Demyer Syndrome, Oro-Facial-Digital Syndromes, FGFR1-Related Hartsfield Syndrome and Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Syndrome. In conclusion, invasive diagnostic and genetic testing is indicated when a genetic syndrome is suspected due to multiple fetal anomalies. The genetic result can help parents and healthcare providers make informed decisions regarding pregnancy. 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.