Spectrum of ocular manifestations in apert syndrome

Nishi Prasad, Aditi Dubey, Kavita Kumar
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Abstract

Apert syndrome is a congenital type 1 acrocephalosyndactyly characterized by craniosynostosis, dysmorphic facial features and symmetrical syndactyly. There is premature fusion of cranial sutures which leads to restriction of intracranial and orbital space expansion giving characteristic dysmorphic facial appearance. We are reporting two cases of Apert syndrome of different age groups from ophthalmic point of view, and with different sets of ocular manifestation. Of the two cases, the one who presented early had a better visual prognosis. Apert Syndrome has a social stigma and the patients often suffers social and psychological disturbances. Patient counselling, timely management by multidisciplinary approach and regular follow ups are an important aspect which can offer a better quality of life.
apert综合征的眼部表现谱
Apert综合征是一种先天性1型肩头并指畸形,其特征是颅缝闭合,面部畸形和对称的并指。颅缝过早融合导致颅内和眼眶空间扩张受限,形成特征性的面部畸形。我们报告两例不同年龄组的Apert综合征,从眼科的角度来看,有不同的眼部表现。在这两个病例中,早期出现的患者视力预后较好。Apert综合征具有社会污名,患者经常遭受社会和心理障碍。患者咨询,及时管理多学科方法和定期随访是一个重要方面,可以提供更好的生活质量。
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