Marshall–Smith 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 mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.

Presentation

The syndrome is a rare clinical disorder.Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
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* Physical
** Overgrowth
** Accelerated skeletal maturation
** Dysmorphic facial features
*** Prominent eyes
*** Bluish sclerae
*** Coarse eyebrows
*** Upturned nose
* Radiologic examination
** Accelerated osseous maturation
** Phalangeal abnormalities
** Tubular thinning of the long bones
** Skull abnormalities
* Mental
** Often associated with intellectual disability (of variable degree)

Genotype

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

Diagnosis

* Clinical course
** Respiratory difficulties (like upper airway obstruction. (Note regarding clinical variability: respiratory difficulties might be absent.)
** Pneumonia
** Failure to thrive
** Psychomotor retardation

Respiratory complications are often cause of death in early infancy.

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:
* Marshall syndrome
* Sotos (like) syndrome (Malan syndrome)
* Weaver-Smith syndrome (WSS)

Terminology

Translated

* English: Marshall–Smith syndrome
* Español: Síndrome de Marshall–Smith
* Français: Le syndrome de Marshall–Smith
* Italiano: Sindrome di Marshall–Smith
* Nederlands: Marshall–Smithsyndroom, syndroom van Marshall–Smith
* Polski: Zespół Marshalla–Smitha, Zespół Marshalla i Smitha
* Русский: Синдром Маршалла–Смита

References

Further reading

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* Adam, M., Hennekam, R.C.M., Butler, M.G., Raf, M., Keppen, L., Bull, M., Clericuzio, C., Burke, L., Guttacher, A., Ormond, K., & Hoyme, H.E. (2002). Marshall–Smith syndrome: An osteochondrodysplasia with connective tissue abnormalities. 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis, August 7, Clemson, SC.
* Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American Journal of Medical Genetics 137A:117–124, 2005.
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* Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#sito de una observad#n personal. An Esp Pediatr 1983; 18:45-50.
* Butler, M.G. (2003). Marshall–Smith syndrome. In: The NORD Guide to Rare Disorders. (pp219–220) Lippincott, Williams & Wilkins, Philadelphia, PA.
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* Charon A, Gillerot T, Van Maldergem L, Van Schaftingen MH, de Bont B, Koulischer L. The Marshall–Smith syndrome. Eur J Pediatr 1990; 150: 54–5.
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* Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G. & Gillerot, Y. (1998). Anaesthetic management of a child with Marshall–Smith syndrome. Canadian Journal of Anesthesia. 45 (7): 660
Anaesthetic management of a child with Marshall-Smith syndrome
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* Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall–Smith syndrome
Clinical Report: Osseous fragility in Marshall-Smith syndrome
* Ehresmann, T., Gillessen-Kaesbach G., Koenig R. (2005). Late diagnosis of Marshall Smith Syndrome (MSS). In: Medgen 17

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* Hassan M, Sutton T, Mage K, LimalJM, Rappaport R. The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations: (the so-called Marshall–Smith syndrome). Pediatr Radiol 1976; 5:53-57.
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* Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. Western Society for Pediatric Research, Carmel, California, February, 1987. Clin Res 35:68A, 1987.
* Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. David W. Smith Morphogenesis and Malformations Workshop. Greenville, SC, August, 1987. Proceedings of the Greenwood Genetics Center 7:152, 1988.
* Hoyme HE, Byers PH, Guttmacher AE: Marshall–Smith syndrome: Further evidence of an osteochondrodysplasia in long-term survivors. David W. Smith Morphogenesis and Malformations Workshop, Winston-Salem, NC, August, 1992. Proceedings of the Greenwood Genetic Center 12:70, 1993.
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* Tzu-Jou Wang (2002). Marshall–Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. Am J Med Genet Part A;112 (1):107-108

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External links

clinical synopsis at Online Mendelian Inheritance in Man (OMIM)

{{DEFAULTSORT:Marshall-Smith syndrome
Syndromes with intellectual disability
Syndromes affecting bones
Rare syndromes