Síndrome LEOPARD
Resumen
El síndrome LEOPARD es una genodermatosis esporádica o autosómica dominante de gran penetrancia y expresividad variable, poco frecuente, con pocos casos reportados en la literatura científica.
Su nombre es un acrónimo que, por sus siglas en inglés, resume las principales características del síndrome: L, lentiginosis; E, alteraciones electrocardiográficas; O, hipertelorismo ocular; P, estenosis de la arteria pulmonar; A, anormalidades genitourinarias; R, retraso del crecimiento, y D (deafness), sordera neurosensorial.
Se presenta un caso que ilustra algunas de las manifestaciones clásicas del síndrome LEOPARD, y se resalta la importancia del estudio, abordaje y seguimiento multidisciplinario.
Citas
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