Leopard syndrome primary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
Genetic counseling should be offered before deciding to have children, careful examination of all family members as the syndrome usually present with incomplete form.
Primary Prevention
It is recommended that those with the syndrome who are capable of having children seek genetic counseling before deciding to have children. As the syndrome presents frequently as a forme fruste (incomplete, or unusual form) variant, an examination of all family members must be undertaken.[1] As an autosomal dominant trait there is a fifty percent chance with each child, that they will also be born with the syndrome. This does not take into account the possibility of the gene mutating on its own, in a child of a LEOPARD syndrome patient who does not inherit the gene from the affected parent. Since the syndrome has a variable penetrance and expression, one generation may have a mild expression of the syndrome, while the next may be profoundly affected.
References
- ↑ Józwiak S, Schwartz RA, Janniger CK (1996). "LEOPARD syndrome (cardiocutaneous lentiginosis syndrome)". Cutis. 57 (4): 208–14. PMID 8727768.