¿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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1.
Stiles J, Jernigan TL. The Basics of Brain Development. Neuropsychol Rev [Internet]. 2010 Dec [cited 2016 Jul 28];20(4):327–48. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989000/
1.
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain [Internet]. 2012 May 1 [cited 2017 Feb 26];135(5):1348–69. Available from: https://academic.oup.com/brain/article/135/5/1348/304670/A-developmental-and-genetic-classification-for
1.
Barkovich AJ. Developmental disorders of the midbrain and hindbrain. Front Neuroanat [Internet]. 2012 [cited 2017 Feb 26];6. Available from: http://journal.frontiersin.org/article/10.3389/fnana.2012.00007/abstract
1.
Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007 Dec;62(6):625–39.
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