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Marshall-Smith syndrome



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Marshall-Smith syndrome

Discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith). Marshall-Smith Syndrome 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 variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties. See: clinical synopsis).

Definition

Encyclopedia of Genetic Disorders

Description

The syndrome is a rare clinical disorder [1].

  • Online Mendelian inheritance in man - MARSHALL-SMITH SYNDROME
  • Encyclopedia of Genetic Disorders
  • Marshall-Smith syndrome

Phenotype

An extended synopsis can be found at the Online Mendelian Inheritance in Man (OMIM): clinical synopsis.

Health and screening

  • Clinical course
    • Respiratory difficulties (like upper airway obstruction as observed in [4])). (Note regarding clinical variabililty: respiratory difficulties might be absent[4].)
    • Pneumonia [3]
    • Failure to thrive [3]
    • Psychomotor retardation [3]

Respiratory complications are often cause of death in early infancy. [5]

Treatment

See for example sections Case report and Research.

Note: Due to complicated medical treatment of symptoms (sometimes in parallel involving several hospitals, medical divisions, and specialists), preventive actions on easily treatable, minor issues can easily be overlooked.

Research

  • Marshall RE, Graham CB, Scott CR, Smith DW. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr 1971; 78:95-101.

After the first discovery and description of Marshall-Smith syndrome in 1971, research to this rare syndrome has been carried out.

  • 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. Am J Med Genet 137A:117–124, 2005.
  • Antila H, Laitio T, Aantaa R, Silvoniemi P, Pakkanen A. Difficult airway in a patient with Marshall-Smith syndrome. Paediatr Anaesth. 1998;8(5):429-32.
  • Bab, K., Fujikaw, S., Nakamur, H., Shimur, T., Utsum, Y. Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges. J Pediatr 1979. 94, 1 с. 00093-5
  • Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#{225}ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#{243}sito de una observad#{243}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.
  • Butler, M.G. (2004). Marshall-Smith syndrome: Follow-up report of a four and one half year old male. Am. J. Med. Genet. 126A(3): 329-330.
  • Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J. Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. Clin Dysmorphol. 2006 Apr;15(2):111-113. [5]
  • Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall-Smith syndrome. Clinical Report: Osseous fragility in Marshall-Smith syndrome
  • Eich, G.F., Silver, M.M., Weksberg, R., Daneman, A., & Costa, T. Marshall-Smith Syndrome: New Radiographic, Clinical, and Pathologic Observations
  • Fitch N. Update on the Marshall-Smith-Weaver controversy (letter). Am J Med Genet 1985; 20:559-562.
  • 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.
  • Hou JW. Long-term follow-up of Marshall-Smith syndrome: report of one case. Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):232-5. [6]
  • 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.
  • Johnson JP, Carey JC, Glassy FJ, Paglieroni T, Lipson MH. Marshall-Smith syndrome: two case reports and a review of pulmonary mamfestations. Pediatrics 1983; 71:219-223. [7]
  • Poznanski AX. Marshall-Smith syndrome. In: Poznanski AK, ed. The hand in radiologic diagnosis. 2nd ed. Philadelphia: Saunders, 1984;405-477.
  • Roodhooft AM, Van Acker KJ, Van Thienen MN, Martin JJ, Ceuterick C. Marshall-Smith syndrome: new aspects. Neuropediatrics 1988; 19:179-182.
  • Shimura T, Utsumi Y, Fujikawa S, Nakamura H, Baba K. Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactyly, and without broad middle phalanges. J Pediatr 1979; 94:93-95.
  • Smyth RL, Gould JDM, Baraitser M. A case of Marshall-Smith or Weaver syndrome. J R Soc Med 1989; 82:682-683. [8]
  • Sperli, D., Concolino, D., Barbato, C., Strisciuglio, P., & Andria, G. Long survival of a patient with Marshall-Smith syndrome without respiratory complications. J Med Genet. 1993 Oct ;30 (10):877-9 8230168. [9]
  • Summers, D.A., Cooper, H.A., & Butler, M.G. (1999). Marshall-Smith syndrome: Case report of a newborn male and review of the literature. Clin. Dysmorph. 8:207-210.
  • De Toni E, Duillo MT, De Toni T, Cortese M, Bergamo F. Una rara sindrome con accelerazione della maturazione scheletrica (sindrome di Marshall): primo caso della litteratura italiana. Minerva Pediatr 1976; 28:1499-1509.
  • Watanabe Y, Tanaka Y, Umemura N, Koitabashi T. [A case of Marshall-Smith syndrome - Japanese article]. Masui. 2003 Aug;52(8):860-2. [10]
  • Williams, D.K., Carlton, D.R., Green, S.H., Pearman, K., & Cole, T.R. Marshall-Smith syndrome: the expanding phenotype. J Med Genet. 1997 Oct ;34 (10):842-5 9350818. [11]
  • Yoder CC, Wiswell T, ComishJD, Cunningham BE, Crumbaker DH. Marshall-Smith syndrome: further delineation. South Med 1988; 81:1297-1300. [12]

More references to research can be found at:

  • Online Mendelian inheritance in man - MARSHALL-SMITH SYNDROME
  • Or by searching via: PubMed

Case reports

  • Difficult airway in a patient with Marshall-Smith syndrome

References

  1. ^ [1]
  2. ^ a b c d [2]
  3. ^ a b c d e f g h i j k [3]
  4. ^ http://lib.bioinfo.pl/pmid:8230168
  5. ^ http://www.lookfordiagnosis.com/cases.php?index=10&lang=1&from=9376

Translated

  • English: Marshall-Smith syndrome
  • Français: Le syndrome de Marshall-Smith
  • Italiana: Sindrome di Marshall-Smith
  • Nederlands: Marshall-Smith syndroom
  • Russian: Синдром Маршалла-Смита

Synonyms

  • MSS
  • Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome, see also: Periodic fever syndrome)
  • Greig's syndrome or Polysyndactyly cephalopolysyndactyly syndrome [13]
  • Accelerated skeletal maturation, Marshall-Smith type [14]

Related syndromes

Marshall-Smith syndrome is not to be confused with:

  • Marshall syndrome
  • Weaver-Smith syndrome (Dutch)

Official website

The site Marshall Smith.org will be rapidly developed into a multiligual platform serving parents, family circle, specialists, and presenting the past and upcoming research.

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Marshall-Smith_syndrome". A list of authors is available in Wikipedia.
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