Cerebral gigantism is an autosomal dominant disorder caused by mutations of the NSD1 gene. Besides excessive growths of trunk and skull, intellectual disability is chracteristic.
Short stature | ||||
Acrocapitofemoral dysplasia | ||||
Brachydactyly | ||||
Short stature, SHOX-linked | ||||
Sotos syndrome 1 | ||||
NSD1 | ||||
Syndromic growth retardation | ||||
1. |
Smith M et al. (1997) No evidence for uniparental disomy as a common cause of Sotos syndrome. |
2. |
Hooft C et al. (1968) [Familial cerebral gigantism]. |
3. |
Maldonado V et al. (1984) Cerebral gigantism associated with Wilms' tumor. |
4. |
Dodge PR et al. (1983) Cerebral gigantism. |
5. |
None (1983) Cerebral gigantism, intestinal polyposis, and pigmentary spotting of the genitalia. |
6. |
Smith A et al. (1981) Investigations in dominant Sotos syndrome. |
7. |
None (1982) Male to male transmission of cerebral gigantism. |
8. |
Ruvalcaba RH et al. (1980) Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. |
9. |
Boman H et al. (1980) Sotos syndrome in two brothers. |
10. |
Cole TR et al. (1994) Sotos syndrome: a study of the diagnostic criteria and natural history. |
11. |
Scarpa P et al. (1994) Familial Sotos syndrome: longitudinal study of two additional cases. |
12. |
Maroun C et al. (1994) Child with Sotos phenotype and a 5:15 translocation. |
13. |
Allanson JE et al. (1996) Sotos syndrome: evolution of facial phenotype subjective and objective assessment. |
14. |
Schaefer GB et al. (1997) The neuroimaging findings in Sotos syndrome. |
15. |
Kurotaki N et al. (2002) Haploinsufficiency of NSD1 causes Sotos syndrome. |
16. |
Opitz JM et al. (1998) The syndromes of Sotos and Weaver: reports and review. |
17. |
Noreau DR et al. (1998) Congenital heart defects in Sotos syndrome. |
18. |
Brown WT et al. (1998) Identical twins discordant for Sotos syndrome. |
19. |
Robertson SP et al. (1999) Sotos syndrome and cutis laxa. |
20. |
Le Marec B et al. (1999) Gastric carcinoma in Sotos syndrome (cerebral gigantism). |
21. |
Faivre L et al. (2000) Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. |
22. |
Leonard NJ et al. (2000) Sacrococcygeal teratoma in two cases of Sotos syndrome. |
23. |
SOTOS JF et al. (1964) CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. |
24. |
Douglas J et al. (2005) Evaluation of NSD2 and NSD3 in overgrowth syndromes. |
25. |
Kotilainen J et al. (2009) Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. |
26. |
Fryssira H et al. (2010) Two cases of Sotos syndrome with novel mutations of the NSD1 gene. |
27. |
Kaminsky EB et al. (2011) An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. |
28. |
Hirai N et al. (2011) Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. |
30. |
Imaizumi K et al. (2002) Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). |
31. |
Douglas J et al. (2003) NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. |
32. |
Höglund P et al. (2003) Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. |
33. |
Kurotaki N et al. (2003) Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. |
34. |
Türkmen S et al. (2003) Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. |
35. |
Baujat G et al. (2004) Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. |
36. |
Kurotaki N et al. (2005) Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. |
37. |
Melchior L et al. (2005) dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. |
38. |
Tatton-Brown K et al. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. |
39. |
van Haelst MM et al. (2005) Familial gigantism caused by an NSD1 mutation. |
40. |
Kanemoto N et al. (2006) Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? |
41. |
Zonana J et al. (1977) Dominant inheritance of cerebral gigantism. |
42. |
Hansen FJ et al. (1976) Familial occurrence of cerebral gigantism, Sotos' syndrome. |
43. |
Cole TR et al. (1992) Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? |
44. |
Tsukahara M et al. (1991) High resolution-banded chromosomes from patients with Sotos syndrome. |
45. |
Cole TR et al. (1990) Sotos syndrome. |
46. |
Nance MA et al. (1990) Neuroblastoma in a patient with Sotos' syndrome. |
47. |
Schrander-Stumpel CT et al. (1990) Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) |
48. |
Bale AE et al. (1985) Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics. |
49. |
None (1988) The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences? |
50. |
Goldstein DJ et al. (1988) Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence? |
51. |
Kaneko H et al. (1987) Congenital heart defects in Sotos sequence. |
52. |
Butler MG et al. (1985) Metacarpophalangeal pattern profile analysis in Sotos syndrome. |
53. |
None (1985) Sotos syndrome--autosomal dominant inheritance substantiated. |
54. |
Stephenson JN et al. (1968) Cerebral gigantism. |
55. |
Bejar RL et al. (1970) Cerebral gigantism: concentrations of amino acids in plasma and muscle. |
56. |
OMIM.ORG article Omim 117550 |
57. |
Wikipedia article Wikipedia EN (Sotos_syndrome) |