Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum.
- intellectual disability
- respiratory difficulties
- most cases are sporadic
Treatment and prognosis
Most cases with Marshall-Smith syndrome do not survive past early infancy, with death often occurring by three years of age, largely due to severe respiratory complications and infections that may result from them.
History and etymology
It was initially described by R E Marhsall and D W Smith et al. in 1971 2.
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