Paciente pediátrico con poiquilodermia de inicio temprano
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1.
Fiallos Brito EJ, Toapanta Yugcha IG, Villacrés Gavilanes SC. Paciente pediátrico con poiquilodermia de inicio temprano. Rev.méd.sinerg. [Internet]. 1 de marzo de 2023 [citado 28 de febrero de 2024];8(3):e990. Disponible en: https://revistamedicasinergia.com/index.php/rms/article/view/990

Resumen

Se presenta el caso de una paciente femenina de 9 años de edad, con antecedentes de prematuridad, y retazo del crecimiento, que cursa con cuadro clínico de poiquilodermia de inicio temprano con diferentes características clínicas que incluyen talla baja, pestañas o cejas escasas, con sospecha de síndrome de Bloom vs síndrome de Rothmund-Thomson, el cual se abordó mediante el estudio de los genes BLM y RECQL4.

https://doi.org/10.31434/rms.v8i3.990

Palabras clave

Rothmund-Thomson. bloom. genodermatosis y poiquilodermia.
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Citas

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