Dysmorphic Syndromes with Hamartomatous and Skeletal Anomalies
摘要
In many cases of hamartomatosis, the involvement of the skeleton is relevant. These are anomalies with a high rate of malignant degeneration that cannot be identified in the prenatal period through ultrasound. Some osteodysplastic syndromes are due to an anarchic tissue development (enchondromatosis, Maffucci syndrome, fibrous dysplasia); some other diseases are phacomatoses (Recklinghausen disease, Bourneville disease).