Dysmorphic Syndromes with Skin and Skeletal Anomalies
摘要
This group includes malformative pictures in which skin and skeletal anomalies are associated. The most common syndromes with such associations are incontinentia pigmenti, CHILD syndrome, Bloom syndrome, Goltz syndrome, Rothmund-Thomson syndrome, and Leopard syndrome. Only through the recognition of anomalies visible on ultrasound in other systems can we suspect syndromes in which skin dysmorphism is obviously impossible to ascertain except by genetic study.