Marshall–Smith syndrome explained

Marshall-Smith syndrome
Synonyms:	Greig's syndrome, Polysyndactyly cephalopolysyndactyly syndrome, Accelerated skeletal maturation, Marshall-Smith type, Marshall–Smith–Weaver 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.

Presentation

The syndrome is a rare clinical disorder.^[1]

• 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 intellectual disability (of variable degree)^[2]

Genotype

The first gene - NFIX - that could cause the syndrome has been identified.^[4] This gene is located on the short arm of chromosome 19 (19p13.1).

Diagnosis

• Clinical course
  • Respiratory difficulties (like upper airway obstruction.^[5] (Note regarding clinical variability: respiratory difficulties might be absent.^[2])
  • Pneumonia^[3]
  • Failure to thrive^[3]
  • Psychomotor retardation^[3]

Respiratory complications are often cause of death in early infancy.^[1]

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

• Marshall syndrome
• Malan syndrome^[4]
• 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

Further reading

• 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. . 78 . 1 . 95–101 . Jan 1971 . 4321601 . 10.1016/S0022-3476(71)80269-X .
• 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 . Difficult airway in a patient with Marshall-Smith syndrome . Paediatr Anaesth . 8 . 5 . 429–32 . 1998 . 9742541 . 10.1046/j.1460-9592.1998.00763.x. 1342859 . .
• Shimura T, Utsumi Y, Fujikawa S, Nakamura H, Baba K . Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges . J. Pediatr. . 94 . 1 . 93–5 . Jan 1979 . 758435 . 10.1016/S0022-3476(79)80366-2 .
• Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#sito de una observad#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 . Marshall-Smith syndrome: Follow-up report of a four and a half year old male . . 126A . 3 . 329–30 . Apr 2004 . 15054853 . 6816456 . 10.1002/ajmg.a.20603 .
• 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. . 156 . 6 . 463–4 . Jun 1997 . 9208244 . 10.1007/s004310050640 . 1604784 . 2008-12-08 . https://web.archive.org/web/20011122043421/http://link.springer.de/link/service/journals/00431/bibs/7156006/71560463.htm . 2001-11-22 . dead .
• 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 . Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome . Clin Dysmorphol. . 15 . 2 . 111–113 . Apr 2006 . 16531739 . 10.1097/01.mcd.0000194408.30794.2f .
• 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. http://www.gfhev.de/abstracts_kongresse/2005Abstracts.pdf
• Fitch N . Update on the Marshall-Smith-Weaver controversy . American Journal of Medical Genetics . 20 . 3 . 559–62 . Mar 1985 . 3993681 . 10.1002/ajmg.1320200318 . Opitz . John M. . Reynolds . James F. .
• 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 . 45 . 4 . 232–5 . 2004 . 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 . Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations . Pediatrics . 71 . 2 . 219–23 . Feb 1983 . 10.1542/peds.71.2.219 . 6823423 . 45010869 .
• Machotta A, Hoeve H . Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome . Paediatr Anaesth . 18 . 4 . 341–2 . Apr 2008 . 18315650 . 10.1111/j.1460-9592.2008.02470.x . 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 . 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 . July 2010 . 10.1016/j.ajhg.2010.07.001. 20673863 . 2917711 .
• Pappas CT, Rekate HL . Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report . J. Neurosurg. . 75 . 2 . 317–9 . Aug 1991 . 2072173 . 10.3171/jns.1991.75.2.0317 .
• Book: Poznanski AX . Marshall-Smith syndrome . Poznanski AK . The hand in radiologic diagnosis: with gamuts and pattern profiles . Saunders . Philadelphia . 1984 . 405–77 . 0-7216-1325-X . 2nd.
• Roodhooft AM, Van Acker KJ, Van Thienen MN, Martin JJ, Ceuterick C . Marshall-Smith syndrome: new aspects . Neuropediatrics . 19 . 4 . 179–82 . Nov 1988 . 3205374 . 10.1055/s-2008-1052441 . 260242294 .
• Smyth RL, Gould JD, Baraitser M . A case of Marshall-Smith or Weaver syndrome . J R Soc Med . 82 . 11 . 682–3 . Nov 1989 . 2593121 . 1292378 . 10.1177/014107688908201117 .
• Summers DA, Cooper HA, Butler MG . Marshall-Smith syndrome: case report of a newborn male and review of the literature . Clin Dysmorphol. . 8 . 3 . 207–10 . Jul 1999 . 10.1097/00019605-199907000-00010 . 10457856 . 5291286 . .
• De Toni E, Duillo MT, De Toni T, Cortese M, Bergamo F . [Unusual syndrome with acceleration of skeletal maturation (Marshall's syndrome). 1st case in the Italian literature] . Italian . Minerva Pediatr. . 28 . 24 . 1499–509 . Jul 1976 . 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. https://archive.today/20110813091217/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 . Masui . 52 . 8 . 860–2 . Aug 2003 . 13677277 .
• Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH . Marshall-Smith syndrome: further delineation . South Med J . 81 . 10 . 1297–300 . Oct 1988 . 3051433 . 10.1097/00007611-198810000-00022.
• Seidahmed MZ, Rooney DE, Salih MA, etal . Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome . American Journal of Medical Genetics . 85 . 2 . 185–8 . Jul 1999 . 10406675 . 10.1002/(SICI)1096-8628(19990716)85:2<185::AID-AJMG16>3.0.CO;2-W.

External links

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

Notes and References

1. http://www.lookfordiagnosis.com/cases.php?index=10&lang=1&from=9376 Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
2. Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G . Long survival of a patient with Marshall-Smith syndrome without respiratory complications . Journal of Medical Genetics . 30 . 10 . 877–9 . Oct 1993 . 8230168 . 1016575 . 10.1136/jmg.30.10.877 .
3. Eich GF, Silver MM, Weksberg R, Daneman A, Costa T . Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations . Radiology . 181 . 1 . 183–8 . Oct 1991 . 1909446 . 10.1148/radiology.181.1.1909446.
4. 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 . 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 . July 2010 . 10.1016/j.ajhg.2010.07.001. 20673863 . 2917711 .
5. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR . Marshall-Smith syndrome: the expanding phenotype . Journal of Medical Genetics . 34 . 10 . 842–5 . Oct 1997 . 9350818 . 1051092 . 10.1136/jmg.34.10.842 .