Síndrome de Desorganización: Características y descripción del primer caso registrado en el ECEMC.

Abstract

The mouse mutant disorganization (Ds) is an autosomal dominant gene which is lethal in homozygosis, with complete penetrance in heterozygosis. Its expression exhibits an exceptional variety of unusual developmental anomalies in structures derived from various germ layers. Several patients with similar diverse and intriguing anomalies have been reported, raising the possibility of the existence of a human homologue of Disorganization syndrome (DS). In some cases, children with amniotic bands sequence could have a mouse mutant disorganization. Because of this, many children with amniotic bands sequence (ABS) and with abdominal wall defects and other malformations, have been included in cases of DS, concluding that human homologue for DS may be the cause of at least some examples of ABS. Amniotic bands can destroy any structure because they interrupt the blood circulation, leading to encephalocele (actually pseudo-encephalocele), duplication, “cleft lip” and amputations of parts, that stick to other body sites. Before the diagnosis, a detailed analysis should be made to identify primary and secondary malformations. In 1995, the GATA4 gene was mapped at chromosomes 14 and 8 in mice and humans, respectively. GATA4 protein is implicated in the organogenesis processes, particularly in the endoderm and mesoderm formation and their derivatives. The knock-out mice to produce the GATA4 protein are lethal. We describe a female newborn at term presenting with imperforate anus, recto-vestibular fi stula, lipomeningocele and lumbosacral skin appendage with three rudimentary fi ngers. The similarity between the proband´s anomalies, those in previously reported cases and those found in mice support the possibility that this is the fi rst case of Disorganization syndrome in ECEMC. Therefore, its frequency in our registry is less than 1:2,600,000 newborns.