Background: Léri-Weil dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causing short stature with short limbs with deformity of madelung. This disease shows an autosomal dominant pattern of inheritance with high penetrance. Presentation: a family with sick in three generations with Madelung deformity of both dolls and short stature of mesomelic origin. Conclusion: The physical and radiological examination essential to reach the clinical diagnosis. The clinical method is of great value to define this genetic disease and to provide adequate genetic counseling to this family. DeCS: BONE DISPLSIA, MESOMÉLICO SHORTENING, LOW SIZE GENETIC ORIGIN
El síndrome Shprintzen-Goldberg es un trastorno extremadamente infrecuente del tejido conectivo, caracterizado por hábito marfanoide, craneosinostosis con facie peculiar, alteraciones esqueléticas, asociadas a discapacidad intelectual. Se presenta el caso de una adolescente de 14 años que nació con diversas malformaciones: con hábito marfanoide, craneosinostosis, múltiples alteraciones esqueléticas, en las que se incluye aranodactilia, ausencia de grasa subcutánea, con facie peculiar. Después de varios exámenes radiológicos comparados en el tiempo y con otros casos similares, ante la ausencia de alteraciones cardiovasculares y con solo un retardo escolar, se plantea una secuencia malformativa y dismorfológica, que se consigue definir clínicamente como el síndrome malformativo Shprintzen-Goldberg.
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