• Sotos syndrome
• dysmorphism
• overgrowth

Sotos syndrome (MIM 117550) is an overgrowth syndrome first described by Sotos et al¹ in 1964 with over 200 cases reported to date. The syndrome is characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and distinctive facial features.² In a review of 79 patients diagnosed as Sotos syndrome, Cole and Hughes³ showed that the overall gestalt was as efficient as clinical and radiological criteria for the diagnosis. The vast majority of cases are sporadic. Concordant and discordant monozygotic twins have been reported.^4,5 In rare instances, familial cases with autosomal dominant or autosomal recessive inheritance have been suspected and chromosomal rearrangements have also been reported.^4,6 However, the aetiology of Sotos syndrome remains unknown. A hypothalamic origin was first suspected but extensive endocrinological testing failed to show significant anomalies. More recently, chromosomal uniparental disomy has been ruled out.⁷ Here, we report on five unrelated cases with a Sotos facial gestalt, severe developmental delay, moderate to absent overgrowth, and normal bone age. We propose a separate Sotos-like syndrome.