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Medical Articles About Marshall-Smith Syndrome
R.E. Marshall, C.B. Graham, C.R. Scott, D.W. Smith. "Syndrome of accelerated skeletal maturation and relative failure to thrive: A newly recognized clinical growth disorder" J Ped 78.1 (1971): 95-101
https://doi.org/10.1016/S0022-3476(71)80269-X
Hassan, M., et al. "The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations The so-called Marshall-Smith syndrome" Ped Rad 5 (1976): 53-57.
https://link.springer.com/article/10.1007/BF00988665
Ferran, J.L., et al. "Acceleration of bone maturation in the newborn with facial dysmorphia: Marshall-Smith's syndrome (author's transl)" J de Radiologie, D'electrologie, et de Medecine Nucleaire 59.10 (1978): 579-583.
https://europepmc.org/article/med/745175
Johnson, J.P., et al. "Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations" Pediatrics 71.2 (1983): 219-223.
Roodhooft, A.M., et al. "Marshall-Smith syndrome: new aspects" Neuropediatrics 19.04 (1988): 179-182.
https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-2008-1052441
Yoder, C.C., et al. "Marshall-Smith syndrome: further delineation" Southern Medical Journal 81.10 (1988): 1297-1300.
https://europepmc.org/article/med/3051433
Eich, G.F., et al. "Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations" Radiology 181.1 (1991): 183-188.
https://pubs.rsna.org/doi/abs/10.1148/radiology.181.1.1909446
Pappas, C.T.E., et al. "Cervicomedullary junction decompression in a case of Marshall-Smith syndrome: Case report" J Neurosurg 75.2 (1991): 317-319.
https://thejns.org/view/journals/j-neurosurg/75/2/article-p317.xml
Sperli D., et al. "Long survival of a patient with Marshall-Smith syndrome without respiratory complications" J Med Genet. 30.10 (1993): 877-879. doi:10.1136/jmg.30.10.877
https://jmg.bmj.com/content/30/10/877
Sharma AK, et al. "Marshall-Smith syndrome: a distinct entity" Indian Pediatr. 31.9 (1994): 1098-100. PMID: 7883370.
http://repository.ias.ac.in/64161/1/16_PUB.pdf
ENDO, A., et al. "Marshall‐Smith Syndrome: Report of a Case and Review of the Literature" Congenital Anomalies 35.3 (1995): 285-292.
https://onlinelibrary.wiley.com/doi/10.1111/j.1741-4520.1995.tb00957.x
Williams DK, et al. "Marshall-Smith syndrome: the expanding phenotype" J Med Genet. 34.10 (1997): 842-845. doi:10.1136/jmg.34.10.842
https://jmg.bmj.com/content/34/10/842
Cullen, A., et al. "The Marshall-Smith syndrome: a review of the laryngeal complications" Euro. J Pediatrics 156 (1997): 463-464.
https://link.springer.com/article/10.1007/s004310050640
Summers DA, et al. "Marshall-Smith syndrome: case report of a newborn male and review of the literature" Clin Dysmorphol. 8.3 (1999): 207-210.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291286/
MOON, Yeo-Ok, et al. "A Case of Marshall-Smith Syndrome" Journal of the Korean Pediatric Society (2002): 906-911.
https://pesquisa.bvsalud.org/portal/resource/pt/wpr-152807
Kim, Jin Yong, et al. "Marshall-Smith syndrome: case report" Journal of the Korean Radiological Society 47.6 (2002): 697-700.
https://synapse.koreamed.org/articles/1069413
Diab, Mohammad, et al. "Osseous fragility in Marshall–Smith syndrome" Amer. J Med. Genetics Part A 119.2 (2003): 218-222.
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.10173
Watanabe, Yoko, et al. "A case of Marshall-Smith syndrome" Masui. The Japanese Journal of Anesthesiology 52.8 (2003): 860-862.
https://europepmc.org/article/med/13677277
Butler MG. "Marshall-Smith syndrome: Follow-up report of a four and a half year old male" Am J Med Genet A. 126A.3 (2004): 329-330. doi:10.1002/ajmg.a.20603
https://doi.org/10.1002/ajmg.a.20603
Hou, Jia-Woei. "Long-term follow-up of Marshall-Smith syndrome: report of one case" Acta Paediatrica Taiwanica= Taiwan er ke yi xue hui za zhi 45.4 (2004): 232-235.
https://europepmc.org/article/med/15624371
Adam MP, et al. "Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities" Am J Med Genet A. 137.2 (2005):117-24. doi: 10.1002/ajmg.a.30580. PMID: 16086394.
https://doi.org/10.1002/ajmg.a.30580
Kubota, Takuo, et al. "A case with Marshall-Smith syndrome without life-threatening complications" Clin. Ped. Endocrinology 14.Supplement24 (2005): S24_63-S24_67.
https://www.jstage.jst.go.jp/article/cpe/14/Supplement24/14_Supplement24_S24_63/_article/-char/ja/
Deshpande C, et al. "Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome" Clin Dysmorphol. 15.2 (2006):111-3. doi: 10.1097/01.mcd.0000194408.30794.2f. PMID: 16531739.
https://doi.org/10.1097/01.mcd.0000194408.30794.2f
Travan, L., et al. "Marshall–Smith syndrome and septo‐optic dysplasia: An unreported association" American Journal of Medical Genetics Part A 146.16 (2008): 2138-2140.
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.32430
Shaw AC, et al. "Phenotype and natural history in Marshall–Smith syndrome" Am J Med Genet Part A 152A (2010): 2714–2726.
https://doi.org/10.1002/ajmg.a.33709
Malan V, et al. "Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome" Am J Hum Genet. 87.2 (2010):189-198. doi:10.1016/j.ajhg.2010.07.001
https://doi.org/10.1016/j.ajhg.2010.07.001
Salter M, et al. "Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report" J Orthop Surg Res. 5 (2010): 61. doi:10.1186/1749-799X-5-61
https://josr-online.biomedcentral.com/articles/10.1186/1749-799X-5-61
Mitsukawa N, et al. "Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome" J Plast Reconstr Aesthet Surg. 63.8 (2010): e611-4. doi: 10.1016/j.bjps.2010.01.028. Epub 2010 Mar 29. PMID: 20303330.
https://www.jprasurg.com/article/S1748-6815(10)00063-X/fulltext
Trabi, T., et al. "A Grain of Normality: Weaning a Child With Marshall-Smith Syndrome From the Feeding Tube: A Case Report" ICAN: Infant, Child, & Adolescent Nutrition 2.2 (2010): 112-116.
https://journals.sagepub.com/doi/abs/10.1177/1941406410364241
van Balkom IDC, et al. "Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism" J Intellect Disabil Res. 55 (2011): 973– 987.
https://onlinelibrary.wiley.com/doi/10.1111/j.1365-2788.2011.01451.x
Passalacqua C, et al. "A pigmentary skin defect is a new finding in Marshall-Smith Syndrome" Am J Med Genet Part A 155 (2011): 2015–2017.
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.34076
Priolo M, et al. "A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case" Gene. 511.1 (2012): 103– 105.
https://www.sciencedirect.com/science/article/abs/pii/S0378111912010414?via%3Dihub
Schanze D, et al. "Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome" Hum Mutat. 35.9 (2014): 1092– 1100.
https://onlinelibrary.wiley.com/doi/10.1002/humu.22603
Gómez-Santos, E., et al. "Neonatal Marshall–Smith syndrome" Clinical Dysmorphology 23.2 (2014): 42-44.
https://journals.lww.com/clindysmorphol/Citation/2014/04000/Neonatal_Marshall_Smith_syndrome.2.aspx
Herman, T. E., et al. "Marshall–Smith syndrome" Journal of Perinatology 35.4 (2015): 307-309.
https://www.nature.com/articles/jp2014224
Martinez F, et al. "Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes" Pediatr Res. 78.5 (2015): 533– 539.
https://www.nature.com/articles/pr2015135
Vajda, I., and S. Bracke. "A standard of care for the ultra-rare Marshall-Smith syndrome-developmental process and lessons learned" Rare Diseases and Orphan Drugs 2.1 (2015): 5-10.
http://rarejournal.org/index.php/rarejournal/article/view/67
Cao, K., et al. "Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall–Smith syndrome" Journal of Orthopaedic Science 20 (2015): 430-433.
https://link.springer.com/article/10.1007/s00776-013-0452-8
Aggarwal A, et al. "Marshall-Smith syndrome: novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation" Eur J Med Genet. 60.7 (2017): 391– 394.
https://www.sciencedirect.com/science/article/abs/pii/S1769721216303263?via%3Dihub
Gursoy, S., et al. "A case with a rare genetic syndrome: Marshall Smith syndrome" Erciyes Medical Journal 41.S1 (2019): 22-24.
Korn, M., et al. "Rapidly progressive scoliosis in a patient with Marshall-Smith Syndrome" (2019).
https://scholarlycommons.henryford.com/merf2019caserpt/67/
Mulder PA, et al. "Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes" J Intellect Disabil Res. 64.12 (2020): 956-969. doi:10.1111/jir.12787
https://doi.org/10.1111%2Fjir.12787
Noguchi S, et al. "Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula" JA Clin Rep. 6.1 (2020): 37. doi:10.1186/s40981-020-00343-6
https://jaclinicalreports.springeropen.com/articles/10.1186/s40981-020-00343-6
Bupp, C., et al. "A de-novo NFIX mutation causes a case of neonatal lethal Marshall–Smith syndrome" Clinical Dysmorphology 29.4 (2020): 214-216.
Knie, B., et al. "Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature" Childs Nerv Syst 37 (2021): 677–682 https://doi.org/10.1007/s00381-020-04741-0
https://link.springer.com/article/10.1007/s00381-020-04741-0
Sayadi J, Malek I. "Congenital cataract and congenital glaucoma in Marshall-Smith syndrome" Pan Afr Med J. 40 (2021): 147. doi:10.11604/pamj.2021.40.147.30762
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654873/
Shamsudeen A, et al. "Those blue eyes; an eye opener – A rare case report of Marshall–Smith syndrome" J Pediatr Endocrinol Diabetes 2 (2022): 142-4.
https://ispae-jped.com/those-blue-eyes-an-eye-opener-a-rare-case-report-of-marshall-smith-syndrome/
Kooblall KG, et al. "A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome" JBMR Plus. 7.6 (2023): e10739. doi:10.1002/jbm4.10739
https://asbmr.onlinelibrary.wiley.com/doi/10.1002/jbm4.10739
Uzman, C., et al. "A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome" Int. J Dev. Neuroscience (2023).
https://onlinelibrary.wiley.com/doi/abs/10.1002/jdn.10280
Active Research
The Marshall-Smith Syndrome Research Foundation in The Netherlands has brought forth many research studies since its inception. Currently, a team at Oxford University (UK) is also studying MSS.
In the US, there are no known clinical trials being done on Marshall-Smith Syndrome.
Help us fund more research on MSS!
We have partnered with the National Organization of Rare Disorders to help bring awareness to the need for research on Marshall-Smith Syndrome.
One major part of our mission is to fund new and exciting research opportunities.