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. 2024 Aug 3;16(8):e66093. doi: 10.7759/cureus.66093

Table 1. Clinical evaluation of patients with suspected Sotos syndrome.

SD: standard deviation; NSD1: nuclear receptor-binding set domain protein 1

Evaluation of Sotos Syndrome
Clinical manifestations Distinctive facial features (prominent forehead, down slanting palpebral fissures, long and narrow face), developmental delay, overgrowth (height and/or head circumference >2 SD above mean)
Diagnosis Genetic testing for deletion of NSD1 (specific), radiographs showing bone age > chronological age (nonspecific)
Management Treat manifestations → referral to appropriate specialists (e.g. speech/language pathology, psychiatry, endocrinologist, orthopedics, etc.)