Dysmorphic Syndromes with Prevalent Involvement of the Trunk

Dysmorphisms belong to this group in which the involvement of the spine and/or the thoracic cage and/or pelvic girdle is constant and characteristic in association with other anomalies. The main ones are represented by arthro-osteo-onychodysplasia, VATER association, scapuloiliac dysostosis, spondylo-costal dysostosis, cerebro-costo-mandibular syndrome, and KBG syndrome. The characteristic sign in this group of diseases is represented by alterations of the chest and/or spine. The message that must be communicated is that when finding a scoliosis or a narrow chest, or a gross anomalous thoracic morphology, genetic counseling and molecular study of the karyotype should always be requested. In this group, the most frequent anomaly is the VATER association, and it is believed that whenever a single umbilical artery is observed, the pregnant woman is informed of the possible association between the cord anomaly and the VATER association