LEOPARD syndrome
DOI:
https://doi.org/10.29176/2590843X.62Keywords:
Cardiomyopathy, hypertrophic, LEOPARD syndrome, skin diseases, geneticAbstract
The LEOPARD syndrome is a rare sporadic or autosomal dominant genodermatosis with high penetrance and variable expressivity.
The name LEOPARD is an acronym for its major features, which characterize the syndrome: multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, genitourinary abnormalities, retardation of growth and sensorineural deafness.
We present a case that illustrates some of the classic manifestations of the LEOPARD syndrome and highlight the importance of the studying, the monitoring and the multidisciplinary approach.
Author Biographies
María Angélica Macías, Hospital Simón Bolívar
Médica, dermatóloga pediatra, Hospital Simón Bolívar, Bogotá, D.C., Colombia
Ana María Téllez, Fundación Universitaria Sanitas
Médico dermatólogo, Fundación Universitaria Sanitas, Bogotá, D.C., Colombia
John Ballén, Fundación Universitaria Sanitas
Médico dermatólogo, Fundación Universitaria Sanitas, Bogotá, D.C., Colombia
Carolina Hernández, Universidad Militar Nueva Granada
Médica pediatra, Universidad Militar Nueva Granada, Bogotá, D.C., Colombia
References
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