Rhombencephalosynapsis with and without associated malformations

Excerpt

Pasquier et al. [3], in a recent morphological analysis of 40 fetuses from 14 to 35 weeks of gestation found rhombencephalosynapsis (RES) in 11 cases and diencephalo-mesencephalosynapsis in 24 cases, usually associated with other brain anomalies or malformations (agenesis or hypoplasia of corpus callosum, lobar holoprosencephaly, encephalocele, stenosis or forking of Sylvian aqueduct, ventricular dilatation; and extraneuronal anomalies, e.g., VACTERL + H syndrome, etc), while in only two cases of RES (#9, #11) no additional abnormalities were observed. Thus, separation between pure neurological phenotypes and those associated with other syndrome-anomalies were possible. …