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[Marshall-Smith syndrome].
Saitoh S. Saitoh S. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):211-2. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057200 Review. Japanese. No abstract available.
Marshall-Smith syndrome: case report of a newborn male and review of the literature.
Summers DA, Cooper HA, Butler MG. Summers DA, et al. Clin Dysmorphol. 1999 Jul;8(3):207-10. Clin Dysmorphol. 1999. PMID: 10457856 Free PMC article. Review.
Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative failure to thrive. ...This patient's findings broaden the phenotypic spectrum seen in Marshall-Smith syndrome....
Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relati …
Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.
Knie B, Morota N, Ihara S, Tamada I. Knie B, et al. Childs Nerv Syst. 2021 Feb;37(2):677-682. doi: 10.1007/s00381-020-04741-0. Epub 2020 Jul 2. Childs Nerv Syst. 2021. PMID: 32617711 Review.
OBJECTIVE: The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis. ...
OBJECTIVE: The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an ex …
Marshall-Smith syndrome: further delineation.
Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH. Yoder CC, et al. South Med J. 1988 Oct;81(10):1297-300. doi: 10.1097/00007611-198810000-00022. South Med J. 1988. PMID: 3051433 Review.
We have reported a case of the Marshall-Smith syndrome, a condition characterized by accelerated bone maturation, dysmorphic features, respiratory compromise, failure to thrive, neuro-developmental abnormalities, and death in early infancy. ...
We have reported a case of the Marshall-Smith syndrome, a condition characterized by accelerated bone maturation, dysmo …
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH. Adam MP, et al. Am J Med Genet A. 2005 Aug 30;137(2):117-24. doi: 10.1002/ajmg.a.30580. Am J Med Genet A. 2005. PMID: 16086394 Review.
The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, …
The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, …
[Marshall-Smith syndrome].
Izumikawa Y. Izumikawa Y. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):147-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528666 Review. Japanese. No abstract available.
Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.
Khurana E, Orth J, Pletcher B, Turbin RE, Mazzola CA. Khurana E, et al. Childs Nerv Syst. 2024 Aug;40(8):2609-2614. doi: 10.1007/s00381-024-06415-7. Epub 2024 Apr 22. Childs Nerv Syst. 2024. PMID: 38647663 Review.
Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. ...
Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectu …
Variants in nuclear factor I genes influence growth and development.
Zenker M, Bunt J, Schanze I, Schanze D, Piper M, Priolo M, Gerkes EH, Gronostajski RM, Richards LJ, Vogt J, Wessels MW, Hennekam RC. Zenker M, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):611-626. doi: 10.1002/ajmg.c.31747. Epub 2019 Nov 15. Am J Med Genet C Semin Med Genet. 2019. PMID: 31730271 Review.
The exception is provided by specific NFIX variants that act in a dominant negative manner, as these cause a recognizable entity with more severe cognitive impairment and marked bone dysplasia, Marshall-Smith syndrome. NFIX duplications are associated with a …
The exception is provided by specific NFIX variants that act in a dominant negative manner, as these cause a recognizable entity with more s …
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Klaassens M, et al. Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118028 Free PMC article. Review.
Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now re …
Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome …
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.
Seidahmed MZ, Rooney DE, Salih MA, Basit OB, Shaheed MM, Abdullah MA, Abomelha A. Seidahmed MZ, et al. Am J Med Genet. 1999 Jul 16;85(2):185-8. doi: 10.1002/(sici)1096-8628(19990716)85:2<185::aid-ajmg16>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10406675 Review.
We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,X …
We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with …
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