Publication at Faculty of Medicine in Pilsen |
2019
Abstract
Leopard syndrome is a complex dysmorphogenic disease, the name LEOPARD is an acronym consisting of the main symptoms: multiple hyperpigmentations, conduction cardiac disorders or hypertrophic obstructive cardiomyopathy, pulmonary stenosis, genital abnormalities such as cryptorchism, growth restriction, deafness. Not all of the above symptoms are present in a particular patient.
Cognitive deficiency of varying severity is a part of clinical symptomatology.