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Year Number of Results
1988 1
1989 2
1990 1
1992 1
1994 2
1996 1
1997 3
1998 1
1999 1
2000 2
2002 1
2003 2
2004 2
2005 5
2006 3
2007 3
2008 3
2009 3
2010 5
2011 4
2012 3
2013 4
2014 2
2015 3
2016 3
2017 4
2018 2
2019 6
2020 1
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2023 3
2024 4

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77 results

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Page 1
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
Cognition and Behaviour in Sotos Syndrome: A Systematic Review.
Lane C, Milne E, Freeth M. Lane C, et al. PLoS One. 2016 Feb 12;11(2):e0149189. doi: 10.1371/journal.pone.0149189. eCollection 2016. PLoS One. 2016. PMID: 26872390 Free PMC article. Review.
BACKGROUND: Research investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings. ...CONCLUSION: Although a range of studies have provided insight into cognition and behaviour in Sotos
BACKGROUND: Research investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no publis …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Free PMC article. Review.
Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome, respectively, variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rah …
Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 …
Sotos syndrome 1 and 2.
Sotos JF. Sotos JF. Pediatr Endocrinol Rev. 2014 Sep;12(1):2-16. Pediatr Endocrinol Rev. 2014. PMID: 25345081 Review.
Sotos syndrome, described in 1964, was characterized by overgrowth, a distinctive craniofacial configuration, and a non-progressive neurological disorder with mental retardation. ...It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear recepto
Sotos syndrome, described in 1964, was characterized by overgrowth, a distinctive craniofacial configuration, and a non-progre
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K. Zenker M, et al. Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37065762 Free PMC article. Review.
The major categories of syndromes that have been found to be associated with CHI include overgrowth syndromes (e.g. Beckwith-Wiedemann and Sotos syndromes), chromosomal and monogenic developmental syndromes with postnatal growth failure (e.g. Turner, Kabuki, and Costello s …
The major categories of syndromes that have been found to be associated with CHI include overgrowth syndromes (e.g. Beckwith-Wiedemann and …
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. ...Germline mo
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macr
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is …
Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published So
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review.
Danis DO 3rd, Bodamer O, Levi JR. Danis DO 3rd, et al. Int J Pediatr Otorhinolaryngol. 2021 Apr;143:110649. doi: 10.1016/j.ijporl.2021.110649. Epub 2021 Feb 12. Int J Pediatr Otorhinolaryngol. 2021. PMID: 33640723 Review.
OBJECTIVES: Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before and after birth, distinctive facial features, a large and elongated head, and intellectual disability (Sotos et al., 1964; Tatton-Brow …
OBJECTIVES: Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before a …
How to investigate a child with excessive growth?
Coutant R, Donzeau A, Decrequy A, Louvigné M, Bouhours-Nouet N. Coutant R, et al. Ann Endocrinol (Paris). 2017 Jun;78(2):98-103. doi: 10.1016/j.ando.2017.04.006. Epub 2017 May 5. Ann Endocrinol (Paris). 2017. PMID: 28483364 Review.
When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned. The most frequent causes are Marfan syndrome and similar, Sotos
When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examin …
Congenital hyperinsulinism.
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.
HI is usually isolated but may be rarely part of a genetic syndrome (e.g. Beckwith-Wiedemann syndrome, Sotos syndrome etc.). The severity of HI is evaluated by the glucose administration rate required to maintain normal glycemia and the responsiveness …
HI is usually isolated but may be rarely part of a genetic syndrome (e.g. Beckwith-Wiedemann syndrome, Sotos syndrom
77 results