EP07.08: Underdeveloped nasal alae, prenatal ultrasonographic findings and its importance: case report

Assessment of fetal face is the key component of routine anomaly scan as per all guidelines. We report a case of Johanson Blizzard syndrome (JBS) which was presented with nasal alar hypoplasia. During anomaly scan of a fetus from consanguineous parents, a beak-like nose was observed in conjunction with total anomalous pulmonary venous connection. Nasal alas could not be visualised at the level of upper lip in coronal view at all Parents were counselled regarding possibility of genetic disorders and pregnancy termination; however, they decided to continue pregnancy without any intervention. The fetus developed with dilated colon and polyhydramnios and underwent planned Caesarean section at term. After birth the face was notably abnormal with significant nasal cartilage hypoplasia, aplasia cutis, along with imperforated anus. Genetic study on newborn revealed mutations of UBR1gene which was associated with JBS. It is a rare autosomal recessive disorder characterised by exocrine insufficiency, hypoplastic nasal alae, aplasia cutis, imperforated anus, and cardiac abnormalities. To date only few cases of prenatal diagnosis of this syndrome have been reported in literature. There is a long list of conditions with hypoplastic nasal wings reported in the OMIM database. It seems that all sonographers have to be familiar with sonographic feature of nasal alar hypoplasia and visualisation of nostrils should be mandatory part of routine anomaly scan. 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.