Marshall-Smith syndrome

Marshall-Smith syndrome

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: [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=OMIM&dopt=Synopsis&tmpl=dispomimTemplate&list_uids=602535 clinical synopsis] ).

Definition

[http://www.enotes.com/genetic-disorders-encyclopedia/marshall-smith-syndrome Encyclopedia of Genetic Disorders]

Description

The syndrome is a rare clinical disorder [http://www.lookfordiagnosis.com/cases.php?index=10&lang=1&from=9376 Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS ] ] .
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602535 Online Mendelian inheritance in man - MARSHALL-SMITH SYNDROME]
* [http://www.enotes.com/genetic-disorders-encyclopedia/marshall-smith-syndrome Encyclopedia of Genetic Disorders]
* [http://www.cr-ak.org/Smith_&_Wesson_M1917 Marshall-Smith syndrome]

Phenotype

An extended synopsis can be found at the Online Mendelian Inheritance in Man (OMIM): [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=OMIM&dopt=Synopsis&tmpl=dispomimTemplate&list_uids=602535 clinical synopsis] .

* Physical
** Overgrowth [http://lib.bioinfo.pl/pmid:8230168 Long survival of a patient with Marshall-Smith syndrome without respiratory complications ] ]
** Accelerated skeletal maturation
** Dysmorphic facial features
*** Prominent eyes http://radiology.rsnajnls.org/cgi/reprint/181/1/183.pdf]
*** 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 mental retardation (of variable degree)

Health and screening

*Clinical course
** Respiratory difficulties (like upper airway obstruction as observed in [http://lib.bioinfo.pl/pmid:9350818] )). (Note regarding clinical variabililty: respiratory difficulties might be absent.)
** Pneumonia
** Failure to thrive
** Psychomotor retardation

Respiratory complications are often cause of death in early infancy.

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.
* 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.
* Cullen A, Clarke TA, O'Dwyer TP. The Marshall-Smith syndrome: a review of the laryngeal complications. Eur J Pediatr 1997; 156: 463-4.
* 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. [http://www.cja-jca.org/cgi/reprint/45/7/660?ck=nck Anaesthetic management of a child with Marshall-Smith syndrome]
* 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. [http://www.ncbi.nlm.nih.gov/sites/entrez?term=16531739&cmd=search&db=pubmed]
* Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall-Smith syndrome. [http://www3.interscience.wiley.com/cgi-bin/abstract/104050049/ABSTRACT?CRETRY=1&SRETRY=0 Clinical Report: Osseous fragility in Marshall-Smith syndrome]
* Eich, G.F., Silver, M.M., Weksberg, R., Daneman, A., & Costa, T. [http://radiology.rsnajnls.org/cgi/reprint/181/1/183.pdf Marshall-Smith Syndrome: New Radiographic, Clinical, and Pathologic Observations]
* Ehresmann, T., Gillessen-Kaesbach G., Koenig R. (2005). Late diagnosis of Marshall Smith Syndrome (MSS). In: Medgen 17. [http://www.gfhev.de/abstracts_kongresse/2005Abstracts.pdf]
* 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. [http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15624371&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVAbstractPlus]
* 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. [http://pediatrics.aappublications.org/cgi/content/abstract/71/2/219]
* Machotta, A., Hoeve, H. (2008). Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome. Pediatric Anesthesia 18 (4), 341–342 doi:10.1111/j.1460-9592.2008.02470.x. [http://www.blackwell-synergy.com/doi/abs/10.1111/j.1460-9592.2008.02470.x]
* Pappas CTE, Rekate HL. Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. J Neurosurg 1991; 75: 317-9.
* 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. [http://www.pubmedcentral.nih.gov/picrender.fcgi?tool=pmcentrez&artid=1292378&blobtype=pdf]
* 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. [http://lib.bioinfo.pl/pmid:8230168]
* 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.
* 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. [http://www3.interscience.wiley.com/cgi-bin/abstract/97516033/ABSTRACT]
* Watanabe Y, Tanaka Y, Umemura N, Koitabashi T. [A case of Marshall-Smith syndrome - Japanese article] . Masui. 2003 Aug;52(8):860-2. [http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=13677277&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVAbstractPlus]
* 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. [http://lib.bioinfo.pl/pmid:9350818]
* Yoder CC, Wiswell T, ComishJD, Cunningham BE, Crumbaker DH. Marshall-Smith syndrome: further delineation. South Med 1988; 81:1297-1300. [http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=3051433&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVAbstractPlus]
* Zein Seidahmed, M. & D.E. Rooney, M.A.M. Salih, O. Bashir Abdel Basit, M.M. Shaheed, M.A. Abdullah, A. Abomelha. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. Am J Med Genet. 1999. Part A, 85, (2):185-188. [http://www3.interscience.wiley.com/cgi-bin/abstract/62001478/ABSTRACT]

More references to research can be found at:
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602535 Online Mendelian inheritance in man - MARSHALL-SMITH SYNDROME]
* Or by searching via: [http://www.ncbi.nlm.nih.gov/sites/entrez PubMed]

Case reports

* [http://www.lookfordiagnosis.com/cases.php?index=10&lang=1&from=9376 Difficult airway in a patient with Marshall-Smith syndrome]

References

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

Synonyms

* MSS* Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome, see also: Periodic fever syndrome)
* Greig's syndrome or Polysyndactyly cephalopolysyndactyly syndrome [http://www.whonamedit.com/synd.cfm/1665.html]
* Accelerated skeletal maturation, Marshall-Smith type [http://www.whonamedit.com/synd.cfm/1665.html]

Related syndromes

Marshall-Smith syndrome is not to be confused with:
* Marshall syndrome (aka.Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome, see also: Periodic fever syndrome)
* [http://www.erfelijkheid.nl/zena/weaver_syndroom.php Weaver-Smith syndrome] nl icon

Official website

The site [http://www.marshallsmith.org/ Marshall Smith.org] offers a multilingual platform serving parents, family circle, specialists, and presents past and upcoming research.


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