¿Cuando sospechar una enfermedad genética?
Exploración anatómica regional.
Se debe prestar una especial atención a aquellas regiones anatómicas con un desarrollo embriológico complejo.
Existe terminología específica para describir cada una de las alteraciones anatómicas identificables, disponible en Elements of Morphology. También puede codificarse el fenotipo mediante los términos HPO, para poder realizar búsquedas informáticas inequívocas.
Patrones reconocibles.
- Deformación.
- Malformación. Se pueden clasificar en malformaciones mayores y malformaciones menores.
- Disrupción.
- Displasia.
- Secuencia.
- Síndrome. Discapacidad intelectual sindrómica.
- Asociación.
Existe un conjunto de enfermedades metabólicas que cursan con dismorfia característica, motivo por el que deben conocerse, ya que se trata de enfermedades con tratamiento específico.
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1.
Rufo Campos M. Dismorfología, Genética y Neurología Infantil. RevNeurol [Internet]. 2002 [cited 2023 Feb 20];35(01):50. Available from: https://www.neurologia.com/articulo/2002147
Embriopatías. Patrones malformativos de base embriológica.
Malformaciones del SNC. Neuroembriopatías.
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