Sotos syndrome: a study of the diagnostic criteria and natural history

• Published in: Journal of medical genetics Vol. 31; no. 1; pp. 20 - 32
• Main Authors: Cole, T R, Hughes, H E
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.01.1994; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - physiopathology; Adolescent; Age Determination by Skeleton; Anthropometry; Biological and medical sciences; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Complex syndromes; Developmental Disabilities - diagnosis; Developmental Disabilities - physiopathology; Diagnosis, Differential; Face - abnormalities; Female; Gait; Gastrointestinal Diseases - diagnosis; Heart Defects, Congenital - diagnosis; Humans; Infant; Male; Medical genetics; Medical sciences; Respiratory Tract Infections - diagnosis; Syndrome; Human; Phenotype; Sotos syndrome; Malformation; Stomatology; Growth; Diseases of the osteoarticular system; Diagnosis; Complex syndrome; Congenital disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.31.1.20

Seventy-nine patients with a provisional diagnosis of Sotos syndrome were clinically assessed, and their photographs between the ages of 1 and 6 years evaluated. These photographs, together with photographs of first degree relatives, also at ages 1 to 6 years, were reviewed by four clinical geneticists. Forty-one probands (but no first degree relatives) were identified in whom the facial gestalt was thought to be characteristic of Sotos syndrome. Comparison of anthropometric measurements, bone age, and developmental delay in these 41 probands showed marked differences between them and the remaining 38 probands, and allowed the formulation of guidelines for the diagnosis of Sotos syndrome. Length was identified as the most significantly increased prenatal parameter. In childhood occipitofrontal head circumference (OFC), height, and weight were all increased. OFC remained above the 97th centile in all but one case throughout childhood and adulthood, whereas height and weight had a tendency to return towards the mean. This 'normalisation' was more pronounced in females and was probably related to their early puberty. Early developmental delay and an advanced bone age, seen in 100% and 84% respectively of study cases, may be invariable in Sotos syndrome, but selection bias and limited data prevented confirmation of this supposition. The authors suggest that facial gestalt, growth pattern, bone age, and developmental delay are the major diagnostic criteria. Using these criteria, no affected first degree relatives were identified. There were few long term medical complications in the probands, but behavioural difficulties caused considerable parental concern.