Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

We report two fetal cases carrying a de novo I MID1 i mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome GLO:8DU/01dec20:cge13840-toc-0001.jpg PHOTO (COLOR): . gl DATA AVAILABILITY STATEMENT No shared research data. Additionally, autopsy revealed hypertelorism, large forehead, wide nasal bridge, lower set ears, large anterior fontanelle, hypospadias, vermis hypoplasia and enlarged forth ventricle (see Figure 1). 2 Patton MA, Baraitser M, Nickolaides K, Rodeck CH, Gamsu H. Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (opitz-g syndrome). [Extracted from the article]