[Dubowitz syndrome: a dysmorphism syndrome with developmental delay, transitory short stature, hyperactive behavior and atopic dermatitis].
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.
Hochreutener
H
H
Ostschweizerisches Kinderspital, St. Gallen.
Schinzel
A
A
Baerlocher
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D000485:Allergens; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics*; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007428:Intradermal Tests; D013577:Syndrome
D000485:Allergens
Das Dubowitz-Syndrom: ein Dysmorphiesyndrom mit Entwicklungsrückstand, transitorischem Kleinwuchs, hyperaktivem Verhalten und atopischer Dermatitis.