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[Dubowitz syndrome: a dysmorphism syndrome with developmental delay, transitory short stature, hyperactive behavior
H Hochreutener1, A Schinzel, K Baerlocher
1Ostschweizerisches Kinderspital, St. Gallen.
Abstract:
The Dubowitz-syndrome, a rare, autosomal-recessive condition, was seen in a 6-year-old female patient. Verbal, fine motor, and social development were severely retarded. Behavioral disturbances, predominantly hyperactivity were apparent. Short stature of unknown origin became evident during infancy and early childhood. Atopic dermatitis and specific sensitivity to inhalant and nutritive allergens was found. A pattern of minor anomalies included inner epicanthic folds, hypertelorism, flat nasal bridge, globular nasal tip, coarse lips, and retrogenia as well as pes planovalgus, and a sacral dimple.
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