2003, Número 6
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Rev Mex Pediatr 2003; 70 (6)
Controversias acerca del síndrome de Jarcho-Levin: defecto de segmentación vertebral múltiple
Durán MA, Carbajal DM
Idioma: Español
Referencias bibliográficas: 35
Paginas: 295-298
Archivo PDF: 72.21 Kb.
RESUMEN
El síndrome de Jarcho-Levin es un defecto de segmentación vertebral múltiple con alteraciones costales que tiene una forma de presentación genética autosómico recesiva y autosómico dominante. Puede haber casos esporádicos. Las malformaciones descritas tienen un amplio espectro morfológico, radiológico y genético. El empleo de técnicas de biología molecular y más estudios de autopsia serán necesarios para conocer la heterogeneidad de su expresión morfológica, de sus manifestaciones esqueléticas y de otros tejidos en este síndrome controvertido.
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