瓦登堡综合症:一个罕见病例的报告
Md Ilyaz1, Renuka S Jadhav1, Vineeta Pande1
1Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND.
Cureus
|August 30, 2024
概括
瓦登堡综合征 (WS) 是一种罕见的遗传疾病,表现为听力损失和独特的特征. 儿童的早期诊断对于管理和遗传咨询至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 眼科医生 眼科 眼科
背景情况:
- 瓦登堡综合征 (WS) 是一种罕见的,异质的自体遗传性疾病.
- WS的特点是眼皮肤色素缺陷,先天性聋,反乌托邦,以及广泛的鼻根.
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