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Síndrome de Marshall-Smith. Aportaciones. Definición de la enfermedad. Es un síndrome de múltiples malformaciones congénitas, de origen genético y poco frecuente, caracterizado por una alteración de la maduración ósea con anomalías esqueléticas, obstrucción de las vías respiratorias, fallo de medro, retraso psicomotor, discapacidad ...
Marshall-Smith syndrome was originally considered as an overgrowth condition based on advanced bone maturation. It is characterized by a dysostosis with skeletal anomalies including progressive kyphoscoliosis, postnatal failure to thrive in weight, short stature, and osteopenia with fractures.
INTRODUCCIÓN. El síndrome de Marshall Smith es una enfermedad genética incluida en el registro de enfermedades raras, con una incidencia no bien establecida, pero inferior a 1/100000, y con menos de 50 casos descritos hasta la fecha en la literatura médica 1.
El síndrome de Marshall-Smith es una enfermedad genética rara caracterizada por estatura alta y edad ósea avanzada al nacer. Se desconoce la prevalencia, aunque se han reportado 30 casos en la literatura.
Marshall-Smith syndrome is a rare genetic disorder that causes advanced bone age, failure to thrive, facial dysmorphism, and intellectual disability. Learn about the symptoms, causes, inheritance, and resources for this condition from the National Library of Medicine.
Marshall-Smith syndrome (MSS) is a very infrequent condition that affects bone formation, growth, nutrition, breathing, and mental development. It is caused by a spontaneous mutation in the NFIX gene and has no known cure or treatment.
Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation.
