Dysmorphic Syndromes with Cardiac and Skeletal Anomalies
摘要
This group includes morbid conditions, characterized by the simultaneous involvement of the cardiovascular system and the skeletal system. The main forms are Holt-Oram syndrome, Singleton-Merten syndrome, and Mulibrey dwarfism. When diagnosed with heart disease, always a genetic study is required because, in very rare cases, there may be an association with congenital osteopathies. These are often abnormalities without mental retardation.