Marshall-Smith syndrome

MRT des
Schädels bei einem Kind mit Marshall-Smith Syndrom: Prominente / "ballonierte" Stirn, im sagittalen Durchmesser verkürzte Schädelbasis, Os odontoideum aktuell noch ohne höhergradige basiläre Impression, jedoch mit relativer Enge im Foramen magnum; Dysplasie des Spleniums des Corpus callosum. Links T2 axial und sagittal, rechts T1 sagittal.
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Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation . Many cases, however, have a wider clinical spectrum.

Clinical presentation

  • general
  • skeletal
    • accelerated skeletal maturation
  • craniofacial
    • dysmorphic facial features
    • prominent eyes
    • bluish sclerae
    • coarse eyebrows
    • upturned nose
  • intellectual disability
  • respiratory difficulties

Pathology

Genetics
  • 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 .

Siehe auch:
Assoziationen und Differentialdiagnosen zu Marshall-Smith-Syndrom:
Stickler-Syndrom
 
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