Figure 1From: Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsyPhenotype of propositus. Head and neck: large ears with prominent antehelix, little hair, hypotelorism and short neck. Skin: acne vulgaris and hemangiomatas. Hands: short fingers and distal deformed in both thumbs. Body: wide shoulders and narrows pelvic girdle.Back to article page