Clinical Features

Somatic characteristics are a square-shaped head; a narrow, upward-slanted palpebral fissure with median epicanthic folds; flat nasal bridge; thick lips and tongue; and low-set ears. The neck, stature, and extremities are short.

Systemic manifestations include congenital heart disease, commonly an atrioventricular septal defect, duodenal stenosis or atresia, umbilical hernia, minor bony anomalies, and abnormal palmar dermogram (simian crease). Patients are at a higher risk of developing acute leukemias and infections.

Neuropsychiatric Manifestations. Mental retardation ranges from mild to severe. The disposition is generally pleasant and happy. Those who reach age 30 or over almost invariably develop a progressive dementia.

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