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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 intellectual disability. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.

Presentation

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 intellectual disability (of variable degree)

Genotype

The first gene - NFIX - that could cause the syndrome has been identified. This gene is located on the short arm of chromosome 19 (19p13.1).

Diagnosis

• 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.

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

• Marshall syndrome
• Malan syndrome
• Weaver syndrome (WSS)

Terminology

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

References

1. Online Mendelian Inheritance in Man (OMIM): Marshall-Smith syndrome - 602535
2. ^ Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
3. ^ Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G (Oct 1993). "Long survival of a patient with Marshall-Smith syndrome without respiratory complications". Journal of Medical Genetics. 30 (10): 877–9. doi:10.1136/jmg.30.10.877. PMC 1016575. PMID 8230168.
4. ^ Eich GF, Silver MM, Weksberg R, Daneman A, Costa T (Oct 1991). "Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations". Radiology. 181 (1): 183–8. doi:10.1148/radiology.181.1.1909446. PMID 1909446.
5. ^ 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. PMC 2917711. PMID 20673863.
6. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR (Oct 1997). "Marshall-Smith syndrome: the expanding phenotype". Journal of Medical Genetics. 34 (10): 842–5. doi:10.1136/jmg.34.10.842. PMC 1051092. PMID 9350818.

Further reading

• 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.
• 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. S2CID 1342859..
• 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. PMC 6816456. 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. S2CID 1604784. Archived from the original on 2001-11-22. Retrieved 2008-12-08.
• 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.
• 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. doi:10.1542/peds.71.2.219. PMID 6823423. S2CID 45010869.
• 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. S2CID 7656250.
• 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. PMC 2917711. PMID 20673863.
• 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 (ed.). 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. S2CID 260242294.
• Smyth RL, Gould JD, Baraitser M (Nov 1989). "A case of Marshall-Smith or Weaver syndrome". J R Soc Med. 82 (11): 682–3. doi:10.1177/014107688908201117. 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. doi:10.1097/00019605-199907000-00010. PMC 5291286. PMID 10457856..
• De Toni E, Duillo MT, De Toni T, Cortese M, Bergamo F (Jul 1976). "". 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.
• Watanabe Y, Tanaka Y, Umemura N, Koitabashi T (Aug 2003). "". 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.

External links

• clinical synopsis at Online Mendelian Inheritance in Man (OMIM).

• Syndromes with intellectual disability
• Syndromes affecting bones
• Rare syndromes