Malformaţii multiple la un prematur provenit din sarcină gemelară: sindrom Peters Plus? Prezentare de caz

From the clinician’s point of view, whenever there is an association between several malformations in the same patient, a syndrome must always be suspected. Furthermore, it has to be confirmed with the available diagnostic methods. Peters Plus syndrome is one of the rarest genetic syndromes; its prevalence is considered to be under 1:1000000, but the exact value remains unknown. About 100 patients diagnosed with Peters Plus syndrome have been reported in the literature. The syndrome is characterised by anterior chamber eye anomalies (central corneal clouding, iridocorneal adhesions), rhizomelia, typical facial features, developmental delay, congenital heart defects or structural brain malformations. The diagnosis can be confirmed by the identification of a B3GALTL mutation in a homozygous state (autosomal recessive inheritance). We present the case of a preterm infant, born at 35 weeks of gestation from a twin pregnancy obtained by in vitro fertilization, diagnosed with ocular Peters’ anomaly, congenital glaucoma, agenesis of the corpus callosum and coarctation of the aorta.