Choanal atresia :CHARGE is an acronym for the major clinical features of the syndrome (ocular Coloboma (75-90%), Heart defects (50-85%), Atresia of nasal choanae (35-65%), Retardation of growth/development, Genital anomalies (50-70% with male predominance), Ear anomalies (>90%).
hypoplastic vermis with a triangular mid fourth ventricle and characteristic appearance of the midbrain: enlarged superior cerebellar peduncles and the absence of their decussation - 'the molar tooth sign'. JOUBERT'S SYNDROME