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.

• Physical
  • Overgrowth ^[2]
  • Accelerated skeletal maturation ^[2]
  • Dysmorphic facial features ^[2]
    • Prominent eyes ^[3]
    • Bluish sclerae ^[3]
    • Coarse eyebrows ^[3]
    • Upturned nose ^[3]

• Radiologic examination
  • Accelerated osseous maturation ^[3]
  • Phalangeal abnormalities ^[3]
  • Tubular thinning of the long bones ^[3]
  • Skull abnormalities ^[3]

• Mental
  • Often associated with mental retardation (of variable degree) ^[2]

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.