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El síndrome de roberts (rbs) es una enfermedad genética autosómica recesiva que se caracteriza por un retraso en el crecimiento prenatal (de leve a grave) y malformaciones en las extremidades Roberts syndrome, sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. 1 las extremidades superiores se ven más afectadas que las inferiores.
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia) Explore symptoms, inheritance, genetics of this condition.
El síndrome de roberts es un trastorno genético poco frecuente que afecta el desarrollo físico y provoca anomalías faciales y en las extremidades, retrasos en el crecimiento y, en ocasiones, discapacidades intelectuales.
¿qué es el síndrome de roberts El síndrome de roberts es un trastorno genético raro caracterizado por retrasos en el crecimiento antes y después del nacimiento (deficiencia de crecimiento prenatal y posnatal) Malformaciones de los brazos y piernas (extremidades) Anormalidades distintivas del cráneo y la región facial (craneofacial).
Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente que se caracteriza por la asociación de defectos muy variables por reducción de extremidades que afectan tanto a los miembros superiores como a los inferiores, retraso del crecimiento, microcefalia, anomalías craneofaciales y retraso variable del neurodesarrollo. Se reporta el caso de una bebé de un año 11 meses de edad de origen mexicano quién presenta retraso de neurodesarrollo y crecimiento, paladar hendido, miembros torácicos con brazos y antebrazos cortos En pies presenta hipoplasia de segundo y tercer ortejo así como sindactilia, cardiopatía congénita (comunicación. Roberts syndrome is a rare genetic disorder characterized by prenatal and postnatal growth retardation, limbs, and craniofacial defects., the limb defects are similar to those seen in thalidomide embryopathy
Hence, the disorder is also known as pseudothalidomide syndrome.
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