Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth.
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Epidemiology
There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to be between 1:10,000 and 1:50,000 5.
Clinical presentation
- increased birth weight (between the 75th and 97th percentile) and length (above the 97th percentile) 5
- large head circumference at birth (usually above the 97th percentile) 5
- macrocephaly
- excessive growth in the first years of life
- craniofacial dysmorphisms such as dolichocephaly, prominent forehead, hypertelorism, epicanthic folds, flat nasal bridge, down-slanting palpebral fissures, high arched palate, premature eruption of teeth and pointed chin 6
- intellectual disability and developmental delay
Pathology
It is an autosomal dominant syndrome with the majority of cases being described as sporadic 5.
Radiographic features
Increased bone age documentation is a pre-requisite to diagnosis as it is thought that all cases have an advanced bone age at some time 5.
MRI/CT
Identifiable features include:
- cerebral ventricular abnormalities
- prominent trigone
- colpocephaly
- ventriculomegaly
- anomalies of midline structures
History and etymology
It was first described by Juan F. Sotos et al. in 1964 4.
Differential diagnosis
For a large head: see causes of macrocephaly.
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