Understanding LEOPARD Syndrome
Author Information
Author(s): Sarkozy Anna, Digilio Maria Cristina, Dallapiccola Bruno
Primary Institution: IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute
Hypothesis
What are the clinical features and genetic causes of LEOPARD syndrome?
Conclusion
LEOPARD syndrome is characterized by multiple congenital anomalies, particularly affecting the skin, heart, and growth, with a favorable long-term prognosis.
Supporting Evidence
- LEOPARD syndrome is characterized by multiple lentigines, cardiac anomalies, and growth retardation.
- About 85% of cases have a mutation in the PTPN11 gene.
- Patients with LEOPARD syndrome often show facial dysmorphisms and ECG conduction abnormalities.
Takeaway
LEOPARD syndrome is a rare condition that causes skin spots, heart problems, and growth issues, but most people with it can live normal lives.
Methodology
The study involved clinical and molecular analysis of patients with LEOPARD syndrome.
Limitations
The exact birth prevalence of LEOPARD syndrome is unknown, and many cases may be underdiagnosed.
Participant Demographics
Patients reported worldwide, with a focus on those with genetic mutations in the PTPN11 gene.
Digital Object Identifier (DOI)
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