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A 7-year and 5-month old boy with Hunter syndrome is presented. Progressive mental retardation with hearing loss, speech disturbance and growth retardation developed at 1 year of age. Physical findings included dull facial appearance, short stature, macrocephaly, short neck, non-tender scalp nodules, large tongue, thick lips with opened mouth, flat nasal bridge, hirsutism, hepatomegaly, umbilical hearnia, undescended testes, painful limitation... |