Chinta Supriya, Gupta Amit, Sachdeva Virender, Kekunnaya Ramesh
LV Prasad Eye Institute, Hyderabad, India.
J AAPOS. 2011 Dec;15(6):604-5. doi: 10.1016/j.jaapos.2011.07.016.
We report a case of Donnai-Barrow syndrome in a 2-year-old boy who presented with exotropia and prominent eyes since birth. Ocular findings included high myopia, persistent pupillary membrane, and optic nerve hypoplasia. Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural hearing loss, and developmental delay. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported association of persistent pupillary membrane, strabismus, and optic nerve hypoplasia in a patient with Donnai-Barrow syndrome.
我们报告了一例2岁男孩的多奈-巴罗综合征，该患儿自出生以来就患有外斜视和突眼。眼部检查结果包括高度近视、永存瞳孔膜和视神经发育不全。面部表现包括鼻梁宽、眼距过宽和睑裂向下倾斜。该患者还伴有脐膨出、感音神经性听力损失和发育迟缓。磁共振成像显示胼胝体发育不全。据我们所知，这是首例报道的多奈-巴罗综合征患者伴有永存瞳孔膜、斜视和视神经发育不全的病例。
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