Additional recommended knowledge
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]
This list is incomplete; you can help by expanding it.
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]
- ^ a b c d [2]
- ^ a b c d e f g h i j k [3]
- ^ http://lib.bioinfo.pl/pmid:8230168
- ^ 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
This list is incomplete; you can help by expanding it.
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.
|