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18. Una niña de 8 años de bajos recursos socioeconómicos refiere ser más pequeña que el resto de sus compañeros, tiene pobre ganancia ponderal, debilidad muscular importante, periodos de aumento en el tono muscular en las cuatro extremidades y antecedente de dos episodios de convulsiones a la exploración física se le encontró pequeña para su edad, engrosamiento de muñecas y tobillos; extemidades en arco.El diagnóstico clínico se confirma al encontrar:

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