Clinical Features

Patients with PWS have central muscle hypotonia that is manifested prenatally as decreased fetal movements, ab normal fetal position, and difficult delivery. The hypotonia is evident in the newborn period, accompanied by poor sucking and failure to thrive. Hypogonadism resulting in cryptorchidism and scrotal hypoplasia in males and labial hypoplasia in females are also seen in the newborn period.

Hyperphagia and food-seeking behavior start at about 1 year of age and lead to obesity by 1-6 years. The obesity is central and tends to spare the distal extremities. There is mild facial dysmorphism consisting of almond-shaped palpebral fissures and thin upper lip with downturned mouth. Most patients with PWS have small hands and feet, as well as strabismus. About one third have hypo-pigmentation.1-6-1

In addition to the prominent motor delay, there is cognitive developmental delay and, ultimately, mild mental retardation in most cases. The verbal skills are relatively spared.

Characteristic behavioral abnormalities with tantrums, stubbornness, and obsessive-compulsive characteristics are seen in the early childhood. True psychoses later develop in up to 10% of patients.

Clinical diagnostic criteria have been established for PWS to assist clinicians with making clinical diagnosis1-4-1 (Table 1). Laboratory confirmation (see Laboratory Testing) is necessary for all suspected cases and will identify all true PWS cases.

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