J Pediatr Ophthalmol Strabismus. 2022 Jul-Aug;59(4):e42-e45. doi: 10.3928/01913913-20220511-02. Epub 2022 Jul 1.
A 2-year-old boy of consanguineous parents presented with spontaneous globe rupture of the right eye that initially raised suspicions of child abuse. Other ocular and extraocular findings, a similar history of corneal rupture following minor trauma in his sibling, and genetic analysis confirmed the diagnosis of brittle cornea syndrome. .
一名 2 岁的患儿,其父母为近亲结婚,右眼发生自发性眼球破裂,最初引起人们对虐待儿童的怀疑。其他眼部和眼外表现、其同胞在轻微外伤后发生类似的角膜破裂病史,以及基因分析均证实为脆骨-角膜综合征的诊断。