Marshall–Smith syndrome

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.^[1]

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Marshall-Smith syndrome
Other names	Greig's syndrome, Polysyndactyly cephalopolysyndactyly syndrome, Accelerated skeletal maturation, Marshall-Smith type, Marshall–Smith–Weaver syndrome

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Presentation

The syndrome is a rare clinical disorder.^[2]

Physical
- Overgrowth^[3]
- Accelerated skeletal maturation^[3]
- Dysmorphic facial features^[3]
  - Prominent eyes^[4]
  - Bluish sclerae^[4]
  - Coarse eyebrows^[4]
  - Upturned nose^[4]
Radiologic examination
- Accelerated osseous maturation^[4]
- Phalangeal abnormalities^[4]
- Tubular thinning of the long bones^[4]
- Skull abnormalities^[4]
Mental
- Often associated with intellectual disability (of variable degree)^[3]

Genotype

The first gene - NFIX - that could cause the syndrome has been identified.^[5] This gene is located on the short arm of chromosome 19 (19p13.1).^{[citation needed]}

Diagnosis

Clinical course
- Respiratory difficulties (like upper airway obstruction.^[6] (Note regarding clinical variability: respiratory difficulties might be absent.^[3])
- Pneumonia^[4]
- Failure to thrive^[4]
- Psychomotor retardation^[4]

Respiratory complications are often cause of death in early infancy.^[2]

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

Marshall syndrome
Malan syndrome^[5]
Weaver syndrome (WSS) ^{[citation needed]}

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

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^{[link removed]}
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^{[link removed]}
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). "[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. ^{[link removed]}
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.

Marshall–Smith syndrome

Presentation

Genotype

Diagnosis

Differential diagnosis

Terminology

Translated

References

Further reading

External links

Related Articles

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"Marshall-Smith syndrome: the expanding phenotype"

"Marshall-Smith syndrome: Follow-up report of a four and a half year old male"

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