Weis Adina, Bialer Martin G, Kodsi Sylvia
Department of Ophthalmology, North Shore-Long Island Jewish Health System, New Hyde Park, NY, USA.
J AAPOS. 2011 Jun;15(3):295-6. doi: 10.1016/j.jaapos.2011.03.007. Epub 2011 Jun 15.
Duane syndrome is an ocular motility disorder consisting of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements. It occurs in 1%-5% of patients with strabismus and has also been reported in several syndromes and chromosome abnormalities. Although most cases are sporadic, autosomal-dominant inheritance is seen in up to 10% of cases. Recently, Duane syndrome has been reported to occur in the setting of chromosomal duplication. The 48,XXYY syndrome is a rare syndrome involving duplication of the sex chromosomes. Ocular abnormalities are not typical of this condition. We report the first case of Duane syndrome presenting in an 8-month-old boy with XXYY syndrome. This case lends further support to the association of chromosomal duplication and Duane syndrome.
杜安综合征是一种眼球运动障碍，表现为水平眼球运动不足、眼睑退缩、睑裂狭窄以及异常的垂直眼球运动。它在斜视患者中发生率为1% - 5%，也在多种综合征和染色体异常中被报道过。虽然大多数病例是散发性的，但高达10%的病例可见常染色体显性遗传。最近，有报道称杜安综合征发生于染色体重复的情况下。48,XXYY综合征是一种涉及性染色体重复的罕见综合征。眼部异常并非这种疾病的典型表现。我们报告了首例患有XXYY综合征的8个月大男孩出现杜安综合征的病例。该病例进一步支持了染色体重复与杜安综合征之间的关联。
