艾卡迪综合征:一种罕见疾病的临床谱
Sunisha Jakhar1, Dinkar Yadav1, Kapil Bhalla1
1Department of Pediatrics, PGIMS, Rohtak, Haryana, India.
Journal of family medicine and primary care
|April 21, 2025
概括
艾卡迪综合征是女性罕见的遗传性疾病,表现为婴儿,发育迟缓和眼睛异常. 早期诊断和管理对受影响的个体至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 艾卡迪综合征是一种罕见的,严重的遗传性疾病,只影响女性,其特点是特定的三重症状.
- 它表现为婴儿,认知障碍和特有的眼睛异常,以及体的产生.
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