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Prenatal diagnosis of isolated bilateral anophthalmia.

作者信息

Varejão Ana Mesquita, Pestana Inês

机构信息

Obstetrics and Gynecology, Hospital Pedro Hispano, Matosinhos, Portugal

Obstetrics, Hospital Pedro Hispano, Matosinhos, Portugal.

出版信息

BMJ Case Rep. 2021 Aug 17;14(8):e244684. doi: 10.1136/bcr-2021-244684.

DOI:10.1136/bcr-2021-244684
PMID:34404668
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8372786/
Abstract
摘要

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Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.新生儿无眼、小眼和缺损的管理：新生儿科医生与眼科医生的共同照护——文献综述
Ital J Pediatr. 2025 Mar 5;51(1):65. doi: 10.1186/s13052-025-01882-3.
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Clinical Congenital Anophthalmos and Microphthalmos-Experiences of Patients and Their Parents after More than 10 Years of Treatment.临床先天性无眼球和小眼球——患者及其父母超过10年的治疗经历
Children (Basel). 2022 Dec 24;10(1):34. doi: 10.3390/children10010034.

本文引用的文献

1
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.与常染色体隐性无眼/小眼相关的ALDH1A3新突变及文献综述
BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6.
2
Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports.小眼症和无眼症的产前诊断及意义并对当前超声指南进行综述：两例病例报告
J Med Case Rep. 2018 Aug 29;12(1):250. doi: 10.1186/s13256-018-1746-4.
3
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.ALDH1A3 突变导致隐性无眼症和小眼症。
Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.
4
Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: a novel application of the reverse face view.三维超声产前诊断无眼畸形：反向面部视图的新应用
Ultrasound Obstet Gynecol. 2008 Jul;32(1):103-5. doi: 10.1002/uog.5322.