Table 1

Clinical features of Sotos syndrome in our two patients illustrates their course of growth, development, and facial gestalt

Patient 1Patient 2
*LGA, large for gestational age. 
 †SD, standard deviation, corrected for gestational age. 
 NA, not available.
SexMaleMale
Age18 months29 years
Gestation (weeks)3638
BW: LGA*4200 g (+2.5 SD)†4700 g (+3.1 SD)†
BL54 cm (+2.3 SD)†55 cm (+2.5 SD)†
OFC at birth39 cm (+3 SD)NA
Neonatal hypoglycaemia+ Transient+ Transient
Neonatal feeding problems+ Nasogastric feeding for 6 weeks+ Nasogastric feeding for 4 weeks
Advanced postnatal growth++ 6 mth: 75.5 cm (+2.7 SD)++ 5 y: 120 cm (+2.4 SD)
16 mth: 92 cm (+4 SD)Adult: 186 cm (+1.1 SD)
Advanced bone age+ 9–12 mth at calendar age of 4 mth+ Slightly dysharmonic maturation
Macrocephaly++ 4 mth: 46.6 cm (+3 SD)++ 6 mth: 48 cm (+3 SD)
16 mth: 53.5 cm (+2.8 SD)5 y: 56 cm (+3 SD)
Adult: 61.6 cm (+3 SD)
Large hands± 75–95th centile++ >>97th centile
Large feet± 75–95th centile++ >>97th centile
Increased arm spanNA+
Hypotonia++++ Childhood
Delayed motor skills++
Delayed speech±+
Frontal bossing++±
Midfacial narrowing++
Palpebral fissures slanting downwards+
Frontoparietal baldness++
JawSmallPointed chin, prognathism
High arched palate++