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Sotos' syndrome

Known as: syndrome cerebral gigantism, Cerebral Gigantism Syndrome, Cerebral Gigantisms 
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive… 
National Institutes of Health

Related topics

Related topics

37 relations
Abnormal behaviorAtrial Septal DefectsAutosomal dominant inheritanceByzanthine arch palate

Narrower (1)

Nevo syndrome (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by… 
Highly Cited
2003
Highly Cited
2003
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
Sotos syndrome (MIM 117550) is a congenital developmental disorder characterised by overgrowth and advanced bone age in infancy… 
Review
2003
Review
2003
Genetics of Sotos syndrome
Purpose of review Sotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth syndrome characterized by excessive growth… 
2003
2003
Identification of eight novel NSD1 mutations in Sotos syndrome
In this study, we validated the spectrum of NSD1 intragenicmutations among 30 newly collected SoS patients.MATERIALS AND… 
Highly Cited
2002
Highly Cited
2002
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).
We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in… 
1994
1994
Language and behavior in children with Sotos syndrome.
OBJECTIVE To examine language and behavior in children with Sotos syndrome, an overgrowth syndrome involving advanced bone age… 
1990
1990
Autistic features inchildren affected by cerebral gigantism
1980
1980
Sotos syndrome in two brothers
Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial… 
Highly Cited
1979
Highly Cited
1979
Episodic arthritis in children with cystic fibrosis.
Highly Cited
1967
Highly Cited
1967
Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins, and a child who acheived adult gigantic size.
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