新生儿双侧无眼症:多系统异常和诊断挑战的综合征表现。

IF 0.4 Q3 MEDICINE, GENERAL & INTERNAL
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI:10.1093/omcr/omaf133
Mira Hallak, Baraa Emran, Fathi Milhem, Abdalfatah Badran, Ajwad Mallak, Orabi Hajjeh, Noor Nabresi
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引用次数: 0

摘要

无眼症是一种罕见的先天性缺陷,没有眼部组织可见,它发生在1万至2万活产婴儿中。它主要是综合征的一部分,由遗传、环境起源或多因素原因组成。我们提出一个病例的新生儿与双侧眼失,模糊的外生殖器,小头畸形,肾脏异位,提示综合征病因。尽管接受了多学科的治疗,但患者不幸死于并发症,包括难治性呼吸窘迫和癫痫发作。早期诊断依赖于及时的成像和确认,在适当的基因检测指导下进行管理,本病例很好地说明了这一方法。无眼症提出的医疗和社会心理挑战,需要协调,多学科的方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges.

Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges.

Anophthalmia is a rare congenital defect where no ocular tissue is seen, and it involves 1 out of 10 000 to 20 000 live births. It is largely part of syndromes and consists of genetic, environmental origins, or multifactorial causes. We present a case of a neonate with bilateral anophthalmia, ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology. Despite receiving multidisciplinary care, the patient unfortunately succumbed to complications, including refractory respiratory distress and seizures. Early diagnosis relies on timely imaging and confirmation, with management guided by appropriate genetic testing, an approach well illustrated by this case. Anophthalmia presents medical and psychosocial challenges that require a coordinated, multidisciplinary approach.

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来源期刊
Oxford Medical Case Reports
Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
0.90
自引率
0.00%
发文量
125
审稿时长
19 weeks
期刊介绍: Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
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