マーシャル・スミス症候群
WordNet
- Scottish economist who advocated private enterprise and free trade (1723-1790) (同)Adam Smith
- United States blues singer (1894-1937) (同)Bessie Smith
- United States sculptor (1906-1965) (同)David Smith, David Roland Smith
- Rhodesian statesman who declared independence of Zimbabwe from Great Britain (born in 1919) (同)Ian Smith, Ian Douglas Smith
- 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
- religious leader who founded the Mormon Church in 1830 (1805-1844) (同)Joseph Smith
- United States suffragist who refused to pay taxes until she could vote (1792-1886) (同)Julia Evelina Smith
- United States singer noted for her rendition of patriotic songs (1909-1986) (同)Kate Smith, Kathryn Elizabeth Smith
- United States actor (1914-1998) (同)E. G. Marshall
- United States general and statesman who as Secretary of State organized the European Recovery Program (1880-1959) (同)George Marshall, George Catlett Marshall
- United States jurist; as chief justice of the Supreme Court he established the principles of United States constitutional law (1755-1835) (同)John Marshall
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- someone who works metal (especially by hammering it when it is hot and malleable) (同)metalworker
- someone who works at something specified
PrepTutorEJDIC
- (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
- かじ屋;金属細工人 / 製造(製作)人
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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)
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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.[1]
Contents
- 1 Phenotype
- 2 Genotype
- 3 Health and screening
- 4 Alternate names
- 4.1 Translated
- 4.2 Synonyms
- 5 Related syndromes
- 6 Research
- 7 References
- 8 External links
Phenotype
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 mental retardation (of variable degree)[3]
Genotype
The first gene that could cause the syndrome is described recently[5] and is called NF1X (chromosome 19: 19p13.1).
Health and screening
- Clinical course
- Respiratory difficulties (like upper airway obstruction.[6] (Note regarding clinical variabililty: 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]
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 [5]
- 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.
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Marshall-Smith syndrome -602535
- ^ a b Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS
- ^ a b c d e 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.
- ^ a b c d e f g h i j k 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.
- ^ a b 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.
- ^ 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.
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
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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
- Marshall-Smith syndromeの麻酔経験
- 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 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 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 symptoms, causes, diagnosis, and treatment information for Marshall-Smith syndrome (Marshall-Smith Syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
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