Marshall–Smith syndrome

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Marshall-Smith syndrome
Other names Greig's syndrome, Polysyndactyly cephalopolysyndactyly syndrome, Accelerated skeletal maturation, Marshall-Smith type, Marshall–Smith–Weaver syndrome

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 intellectual disability. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties. [1]

Contents

Presentation

The syndrome is a rare clinical disorder. [2]

Genotype

The first gene - NFIX - that could cause the syndrome has been identified. [5] This gene is located on the short arm of chromosome 19 (19p13.1).[ citation needed ]

Diagnosis

Respiratory complications are often cause of death in early infancy. [2]

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

Terminology

Translated

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References

  1. Online Mendelian Inheritance in Man (OMIM): Marshall-Smith syndrome - 602535
  2. 1 2 Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
  3. 1 2 3 4 5 Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G (Oct 1993). "Long survival of a patient with Marshall-Smith syndrome without respiratory complications". Journal of Medical Genetics. 30 (10): 877–9. doi:10.1136/jmg.30.10.877. PMC   1016575 . PMID   8230168.
  4. 1 2 3 4 5 6 7 8 9 10 11 Eich GF, Silver MM, Weksberg R, Daneman A, Costa T (Oct 1991). "Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations". Radiology. 181 (1): 183–8. doi:10.1148/radiology.181.1.1909446. PMID   1909446.
  5. 1 2 Malan V, Rajan D, Thomas S, Shaw AC, dit Picard HL, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Pušeljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V (July 2010). "Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome". American Journal of Human Genetics. 87 (2): 189–198. doi:10.1016/j.ajhg.2010.07.001. PMC   2917711 . PMID   20673863.
  6. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR (Oct 1997). "Marshall-Smith syndrome: the expanding phenotype". Journal of Medical Genetics. 34 (10): 842–5. doi:10.1136/jmg.34.10.842. PMC   1051092 . PMID   9350818.

Further reading