Sotos syndrome

Sotos syndrome it is an overgrowth syndrome. It is autosomal dominant and is consideredsyndrome considered as a form of cerebral gigantism, most characterised by the prenatal and postnatal overgrowth.

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 features

• increased birth weight  (between the 75th and 97th percentile) and length (above the 97th percentile) ⁵
• mental retardation - developmental delay large head circumference at birth (usually above the 97th percentile) ⁵
• macrocephaly
• facialexcessive growth in the first years of life
• craniofacial dysmorphisms are also seen withsuch as dolichocephaly, prominent forehead, hypertelorism, epicanthic folds, flat nasal bridge, downslanting palpebral fissures, broad foreheadhigh arched palate, premature eruption of teeth and pointed chin⁶
• mental retardation and developmental delay 

Radiographic features

Increased bone age documentation is a pre-requisite to diagnosis as it is thought that all cases have advanced bone age at some time ⁵. 

MRI / CT

Identifiable features include

• ventricular abnormalities 
  • prominent trigone
  • colpocephaly
  • ventriculomegaly
• anomalies of midline structures
  • corpus callosal dysgenesis
  • peristent cavum velum interpositum

History and etymology

It was first described by Juan F. Sotos et al. in 1964 ⁴. 

Differential diagnosis

For a large head - see causes ofmacrocephaly.