Marshall-Smith syndrome

マーシャル・スミス症候群

WordNet

1. Scottish economist who advocated private enterprise and free trade (1723-1790) (同)Adam Smith
2. United States blues singer (1894-1937) (同)Bessie Smith
3. United States sculptor (1906-1965) (同)David Smith, David Roland Smith
4. Rhodesian statesman who declared independence of Zimbabwe from Great Britain (born in 1919) (同)Ian Smith, Ian Douglas Smith
5. English explorer who helped found the colony at Jamestown, Virginia; was said to have been saved by Pocahontas (1580-1631) (同)John Smith, Captain John Smith
6. religious leader who founded the Mormon Church in 1830 (1805-1844) (同)Joseph Smith
7. United States suffragist who refused to pay taxes until she could vote (1792-1886) (同)Julia Evelina Smith
8. United States singer noted for her rendition of patriotic songs (1909-1986) (同)Kate Smith, Kathryn Elizabeth Smith
9. United States actor (1914-1998) (同)E. G. Marshall
10. United States general and statesman who as Secretary of State organized the European Recovery Program (1880-1959) (同)George Marshall, George Catlett Marshall
11. United States jurist; as chief justice of the Supreme Court he established the principles of United States constitutional law (1755-1835) (同)John Marshall
12. a pattern of symptoms indicative of some disease
13. a complex of concurrent things; "every word has a syndrome of meanings"
14. someone who works metal (especially by hammering it when it is hot and malleable) (同)metalworker
15. someone who works at something specified

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
2. かじ屋;金属細工人 / 製造(製作)人

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/29 22:40:13」(JST)

wiki en

[Wiki en表示]

Marshall-Smith syndrome
Classification and external resources
OMIM	602535

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 variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.

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 variabililty: respiratory difficulties might be absent.)
  • Pneumonia
  • Failure to thrive
  • Psychomotor retardation

Respiratory complications are often cause of death in early infancy.

Alternate names

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

Related syndromes

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, and 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.  CS1 maint: Explicit use of et al. (link)

References

External links

• Marshall Smith.org offers a multilingual platform serving parents, family circle, specialists, and presents past and upcoming research.
• Encyclopedia of Genetic Disorders
• clinical synopsis at Online Mendelian Inheritance in Man (OMIM).
• Case report: Difficult airway in a patient with Marshall-Smith syndrome

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 頭蓋顔面異常を伴う症候群 syndromes with craniofacial abnormalities
• 2. 高身長や異常に急激な成長がみられる小児 the child with tall stature and or abnormally rapid growth
• 3. 臍帯ヘルニア omphalocele
• 4. 下垂体巨人症 pituitary gigantism
• 5. 女性における腹圧性尿失禁の外科的マネージメント：一次手術の選択 surgical management of stress urinary incontinence in women choosing a primary surgical procedure

English Journal

• Neonatal Marshall-Smith syndrome.

• Gómez-Santos E1, Lloreda-García JM, Fernández-Fructuoso JR, Martínez-Ferrández C, Leante-Castellanos JL, Fuentes-Gutiérrez C.
• Clinical dysmorphology.Clin Dysmorphol.2014 Apr;23(2):42-4. doi: 10.1097/MCD.0000000000000031.
• PMID 24556605

• Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome.

• Cao K1, Watanabe K, Hosogane N, Toyama Y, Matsumoto M.
• Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association.J Orthop Sci.2013 Aug 14. [Epub ahead of print]
• PMID 23943225

• A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.

• Priolo M1, Grosso E, Mammì C, Labate C, Naretto VG, Vacalebre C, Caridi P, Laganà C.Author information 1Unità Operativa di Genetica medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.AbstractThe Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) family proteins, which are implicated as site-specific DNA-binding proteins and is deleted or mutated in a subset of patients with Sotos-like overgrowth syndrome and in patients with Marshall-Smith syndrome. We evaluated an additional patient with clinical features of Sotos-like syndrome by sequencing analysis of the NFIX gene and identified a 21 nucleotide in frame deletion predicting loss of 7 amino acids in the DNA-binding/dimerization domain of the NFIX protein. The deleted residues are all evolutionally conserved amino acids. The present report further confirms that mutations in DNA-binding/dimerization domain cause haploinsufficiency of the NFIX protein and strongly suggests that in individuals with Sotos-like features unrelated to NSD1 changes genetic testing of NFIX should be considered.
• Gene.Gene.2012 Dec 10;511(1):103-5. doi: 10.1016/j.gene.2012.08.040. Epub 2012 Sep 13.
• The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) family proteins, which are implicated as site-specific DNA-binding proteins and is deleted or mutated in a subset of patients with Sotos-like overgrowth syndrome and in patients with Marshall-Smith syndrome. We evaluated an addi
• PMID 22982744

Japanese Journal

• 症例報告 Marshall Smith症候群の男児例における骨年齢の評価

• 内木 康博,堀川 玲子,肥沼 悟郎 [他]
• 日本成長学会雑誌 12(1), 31-35, 2006-04
• NAID 40007317818

• Marshall-Smith syndromeの麻酔経験

• 渡辺 陽子,田中 葉子,梅村 直治 [他]
• 麻酔 52(8), 860-862, 2003-08
• NAID 80016057464

• Marshall-Smith syndrome : Report of a case and review of the literature : The 35th Annual Meeting of the Japanese Teratology Society

• ENDO A.,JIN Y.,MASUNAGA K.,SHIMADA M.,FUJITA Y.,MINATO M.,TAKADA M.,TAKAHASHI S.,HARADA K.
• Congenital anomalies 35(3), 375, 1995-09-30
• NAID 110002787696

Related Links

• Marshall-Smith Syndrome

Marshall-Smith Syndrome is a very rare syndrome. www.marshallsmith.org is a multilangual platform te help patients, parents, researchers and other experts ... MSS UK Tour the Cure Tour provides more than 12000 euro! On ...

• Marshall-Smith Syndrome

Marshall-Smith Syndrome is a very rare syndrome. www.marshallsmith.org is a multilangual platform te help patients, parents, researchers and other experts ... Was ist das Marshall-Smith-Syndrom? Das Marshall-Smith Syndrom ...

• Marshall-Smith syndrome - RightDiagnosis.com

Marshall-Smith syndrome symptoms, causes, diagnosis, and treatment information for Marshall-Smith syndrome (Marshall-Smith Syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...

---

★リンクテーブル★

リンク元	「マーシャル・スミス症候群」
関連記事	「Smith」「Marshall」「syndrome」

「マーシャル・スミス症候群」

　　[★]

英

Marshall-Smith syndrome

「Smith」

　　[★] スミス 　 　 　 　 　 　 　 　

「Marshall」

　　[★]

英

マーシャル

　 　 　

「syndrome」

　　[★]

• n.

• 症候群