Resultado de búsqueda
El síndrome de Marshall-Smith se consideró originalmente como un trastorno de sobrecrecimiento derivado de una maduración ósea acelerada. Está caracterizado por disostosis, con anomalías esqueléticas que incluyen cifoescoliosis progresiva, fallo del incremento ponderal postnatal, talla baja y osteopenia con fracturas.
Marshall-Smith syndrome is a rare genetic condition that causes abnormal bone maturation, skeletal anomalies, airway obstructions, failure to thrive, developmental delay and intellectual disability. It is caused by de novo variants in the NFIX gene and has a poor prognosis due to respiratory complications.
Solo hay 50 niños en el mundo a los que se les ha diagnosticado el síndrome de Marshall-Smith (MSS, por sus siglas en inglés). Los niños con esta enfermedad necesitan ayuda en todo, todos los días, a lo largo de toda su vida.
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.
Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), unique facial features, and intellectual disability.
Learn about the rare genetic disorder Marshall-Smith Syndrome (MSS), caused by a mutation in the NFIX gene. Find out the latest research, news, events and stories of people with MSS from Amsterdam UMC and University of Oxford.
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.
Anuncio
relacionado con: Marshall SmithPeople Search Made Easy. Search Anywhere On Any Device. Access Reliable Information Now! Don't Waste Countless Hours Looking - Find Anyone's Past in Seconds. Get Full Report Now.
