Trisha Shetty (Editor)

Marshall–Smith syndrome

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OMIM
  
602535

Orphanet
  
561

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.

Contents

Phenotype

The syndrome is a rare clinical disorder.

  • 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 mental retardation (of variable degree)

    • Genotype

    The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1).

    Health and screening

  • 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.

    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

  • Greig's syndrome or Polysyndactyly cephalopolysyndactyly syndrome [1]
  • Accelerated skeletal maturation, Marshall-Smith type [2]
  • Marshall–Smith–Weaver syndrome

    • 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)
  • Sotos (like) syndrome
  • Weaver-Smith syndrome (WSS) [3] (Dutch)

    • Research

  • Marshall RE, Graham CB, Scott CR, Smith DW (Jan 1971). "Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder". J Pediatr. 78 (1): 95–101. doi:10.1016/S0022-3476(71)80269-X. PMID 4321601. 

    • 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. American Journal of Medical Genetics 137A:117–124, 2005.
  • Antila H, Laitio T, Aantaa R, Silvoniemi P, Pakkanen A (1998). "Difficult airway in a patient with Marshall-Smith syndrome". Paediatr Anaesth. 8 (5): 429–32. doi:10.1046/j.1460-9592.1998.00763.x. PMID 9742541. .
  • Shimura T, Utsumi Y, Fujikawa S, Nakamura H, Baba K (Jan 1979). "Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges". J Pediatr. 94 (1): 93–5. doi:10.1016/S0022-3476(79)80366-2. PMID 758435. 
  • 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 MG (Apr 2004). "Marshall-Smith syndrome: Follow-up report of a four and a half year old male". American Journal of Medical Genetics. 126A (3): 329–30. doi:10.1002/ajmg.a.20603. PMID 15054853. 
  • 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 (Jun 1997). "The Marshall-Smith syndrome: a review of the laryngeal complications". Eur J Pediatr. 156 (6): 463–4. doi:10.1007/s004310050640. PMID 9208244. 
  • 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
  • Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J (Apr 2006). "Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome". Clin Dysmorphol. 15 (2): 111–113. doi:10.1097/01.mcd.0000194408.30794.2f. PMID 16531739. 
  • 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. [4]
  • Fitch N; Opitz, John M.; Reynolds, James F. (Mar 1985). "Update on the Marshall-Smith-Weaver controversy". American Journal of Medical Genetics. 20 (3): 559–62. doi:10.1002/ajmg.1320200318. PMID 3993681. 
  • 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 (2004). "Long-term follow-up of Marshall-Smith syndrome: report of one case". Acta Paediatr Taiwan. 45 (4): 232–5. PMID 15624371. 
  • 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 (Feb 1983). "Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations". Pediatrics. 71 (2): 219–23. PMID 6823423. 
  • Machotta A, Hoeve H (Apr 2008). "Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome". Paediatr Anaesth. 18 (4): 341–2. doi:10.1111/j.1460-9592.2008.02470.x. PMID 18315650. 
  • Malan V, Rajan D, Thomas S, Shaw AC, dit Picard HL, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Pušeljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V (July 2010). "Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome". American Journal of Human Genetics. 87 (2): 189–198. doi:10.1016/j.ajhg.2010.07.001. 
  • Pappas CT, Rekate HL (Aug 1991). "Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report". J Neurosurg. 75 (2): 317–9. doi:10.3171/jns.1991.75.2.0317. PMID 2072173. 
  • Poznanski AX (1984). "Marshall-Smith syndrome". In Poznanski AK. The hand in radiologic diagnosis: with gamuts and pattern profiles (2nd ed.). Philadelphia: Saunders. pp. 405–77. ISBN 0-7216-1325-X. 
  • Roodhooft AM, Van Acker KJ, Van Thienen MN, Martin JJ, Ceuterick C (Nov 1988). "Marshall-Smith syndrome: new aspects". Neuropediatrics. 19 (4): 179–82. doi:10.1055/s-2008-1052441. PMID 3205374. 
  • Smyth RL, Gould JD, Baraitser M (Nov 1989). "A case of Marshall-Smith or Weaver syndrome". J R Soc Med. 82 (11): 682–3. PMC 1292378. PMID 2593121. 
  • Summers DA, Cooper HA, Butler MG (Jul 1999). "Marshall-Smith syndrome: case report of a newborn male and review of the literature". Clin Dysmorphol. 8 (3): 207–10. PMID 10457856. .
  • De Toni E, Duillo MT, De Toni T, Cortese M, Bergamo F (Jul 1976). "[Unusual syndrome with acceleration of skeletal maturation (Marshall's syndrome). 1st case in the Italian literature]". Minerva Pediatr. (in Italian). 28 (24): 1499–509. PMID 1012192. 
  • 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. [5]
  • Watanabe Y, Tanaka Y, Umemura N, Koitabashi T (Aug 2003). "[A case of Marshall-Smith syndrome]". Masui (in Japanese). 52 (8): 860–2. PMID 13677277. 
  • Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH (Oct 1988). "Marshall-Smith syndrome: further delineation". South Med J. 81 (10): 1297–300. doi:10.1097/00007611-198810000-00022. PMID 3051433. 
  • Seidahmed MZ, Rooney DE, Salih MA, et al. (Jul 1999). "Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome". American Journal of Medical Genetics. 85 (2): 185–8. doi:10.1002/(SICI)1096-8628(19990716)85:2<185::AID-AJMG16>3.0.CO;2-W. PMID 10406675. 

    • References

    Marshall–Smith syndrome Wikipedia
    (Text) CC BY-SA


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