Dysmorphic Syndromes with Cerebral and Skeletal Anomalies

Complex dysmorphic diseases belong to this group, in which anomalies of the central nervous system, skeleton, and other systems are associated, due to a genetic error with polytopic action, which intervenes directly with the various structures without a causal link between the lesions of the affected tissues. The main syndromes in which this association exists are acrocallosal syndrome, Aicardi syndrome, Biemond syndrome, Meckel-Gruber syndrome, and Zellweger syndrome. The resulting message is this: when a brain anomaly is observed, a careful study of all the systems must be carried out, genetic counseling and karyotype study must be requested, associating the panel of cerebropathies with that of skeletal dysplasias.