Sotos syndrome (cerebral gigantism): analysis of 8 cases

Melo, Débora Gusmão; Acosta, Angelina Xavier; Salles, Maria Aparecida de Almeida; Neto, João Monteiro de Pina; Castro, Jaelson; Santos, Antônio Carlos dos

doi:10.1590/s0004-282x2002000200009

Cited by 16 publications

(9 citation statements)

References 20 publications

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“…Excessively rapid growth has been defined as advanced height, weight and bone age; acromegalic features include a prominent forehead, high anterior hairline, prominent chin and downslanting palpebral fissures [ 3 ]. Subsequent research confirmed these cardinal features in larger samples of individuals with Sotos syndrome [ 4 , 5 ]. As macrocephaly is one of the features of the syndrome, initial research often used the terms cerebral gigantism and Sotos syndrome interchangeably to refer to the same condition.…”

Section: Introductionmentioning

confidence: 89%

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

2016

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BackgroundResearch investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings.MethodA systematic review of all published literature (1964–2015) presenting empirical data on cognition and behaviour in Sotos syndrome. Thirty four journal articles met inclusion criteria. Within this literature, data relating to cognition and/or behaviour in 247 individuals with a diagnosis of Sotos syndrome were reported. Ten papers reported group data on cognition and/or behaviour. The remaining papers employed a case study design.ResultsIntelligence quotient (IQ) scores were reported in twenty five studies. Intellectual disability (IQ < 70) or borderline intellectual functioning (IQ 70–84) was present in the vast majority of individuals with Sotos syndrome. Seven studies reported performance on subscales of intelligence tests. Data from these studies indicate that verbal IQ scores are consistently higher than performance IQ scores. Fourteen papers provided data on behavioural features of individuals with Sotos syndrome. Key themes that emerged in the behavioural literature were overlap with ASD, ADHD, anxiety and high prevalence of aggression/tantrums.ConclusionAlthough a range of studies have provided insight into cognition and behaviour in Sotos syndrome, specific profiles have not yet been fully specified. Recommendations for future research are provided.

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Section: Introductionmentioning

confidence: 89%

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

2016

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“…The clinical features of these syndromes differ from those associated with endocrine disorders. For example, several are associated with advanced skeletal age, as opposed to delayed skeletal maturation, including Sotos, Beckwith-Wiedemann and Weaver syndromes (Goodman & Gorlin, 1983;Trabelsi et al, 1990;Melo et al, 2002). Marfan syndrome is characterised by overgrowth of the lower half of the skeleton compared with the upper half, and elongated limbs compared with the trunk (Goodman & Gorlin, 1983;Goldman, 1988).…”

Section: Differential Diagnosismentioning

confidence: 99%

A probable case of gigantism in a fifth Dynasty skeleton from the Western Cemetery at Giza, Egypt

Mulhern

2005

Int. J. Osteoarchaeol.

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Pituitary gigantism is a rare endocrine disorder caused by excess secretion of growth hormone during childhood. Individuals with this condition exhibit unusually tall stature due to prolonged growth as well as associated degenerative changes. Continued secretion of excess growth hormone during adulthood results in acromegaly, a related condition that results in bony overgrowth of the skull, hands and feet.

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“…Ventricles enlargement, prominence of trigone and/or occipital horn, increased extra-cerebral fluid, midline anomalies such as cavum vergae and/or septum pellucidum, thinning or hypoplasia of corpus callosum are frequently reported (Schaefer et al 1997;Aoki et al 1998;Melo et al 2000Melo et al , 2002Horikoshi et al 2006). Some of these anomalies have been discovered in our patient together with dilatation of Virchow-Robin spaces, whose clinical and pathogenic significance remains unclear, although they are considered rare in healthy subjects (Barkhof 2004;Groeschel et al 2006).…”

Section: Discussionmentioning

confidence: 62%