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Literature DB >> 6824623

Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.

J P Calderone, J Chess, G Borodic, D M Albert.

Abstract

The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed.

Entities: Disease

Mesh：

Year: 1983 PMID： 6824623 PMCID： PMC1040001 DOI： 10.1136/bjo.67.3.162

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

42 in total

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Authors: B Hall
Journal: Hereditas Date: 1965 Impact factor: 3.271

2. Nodular renal blastema. Definition and possible significance.

Authors: K E Bove; H Koffler; A J McAdams
Journal: Cancer Date: 1969-08 Impact factor: 6.860

3. Ocular pathology in trisomy 18(Edwards' syndrome).

Authors: J Mullaney
Journal: Am J Ophthalmol Date: 1973-08 Impact factor: 5.258

4. Retinal pigment epithelium in a case of trisomy 18.

Authors: M M Rodrigues; H H Punnett; M Valdes-Dapena; L J Martyn
Journal: Am J Ophthalmol Date: 1973-08 Impact factor: 5.258

5. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors: A I Taylor
Journal: J Med Genet Date: 1968-09 Impact factor: 6.318

6. Histologic structural anomalies in the brain in trisomy 18 syndrome.

Authors: K L Terplan; E C Lopez; H B Robinson
Journal: Am J Dis Child Date: 1970-03

7. Functional implications of differential chromosome banding.

Authors: H Hoehn
Journal: Am J Hum Genet Date: 1975-09 Impact factor: 11.025

8. Ocular manifestations of the Meckel syndrome.

Authors: D W MacRae; R O Howard; D M Albert; Y E Hsia
Journal: Arch Ophthalmol Date: 1972-07

9. Ocular pathology of Trisomy 18.

Authors: J Ginsberg; K Bove; R Nelson; G S Englender
Journal: Ann Ophthalmol Date: 1971-03

10. [Trisomy E (16-18) and congenital juxta-papillary malformation: anatomic study].

Authors: P Danis; D De Gandt; J Dodion; P Petit
Journal: Bull Soc Belge Ophtalmol Date: 1969

7 in total

1. Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome.

Authors: D G Evans; I D Evans; D Donnai; R H Lindenbaum
Journal: J Med Genet Date: 1990-11 Impact factor: 6.318

Review 2. Optic nerve hypoplasia in children.

Authors: S M Zeki; G N Dutton
Journal: Br J Ophthalmol Date: 1990-05 Impact factor: 4.638

3. Trisomy 18 in a 13 year old girl.

Authors: L Mehta; R S Shannon; D P Duckett; I D Young
Journal: J Med Genet Date: 1986-06 Impact factor: 6.318

4. Ankyloblepharon filiforme adnatum in trisomy 18 (Edwards's syndrome).

Authors: D I Clark; A Patterson
Journal: Br J Ophthalmol Date: 1985-06 Impact factor: 4.638

5. Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18.

Authors: Jing Wang; Zixi Chen; Fei He; Trevor Lee; Wenjie Cai; Wanhua Chen; Nan Miao; Zhiwei Zeng; Ghulam Hussain; Qingwei Yang; Qiwei Guo; Tao Sun
Journal: Front Cell Dev Biol Date: 2022-03-22

Review 6. The trisomy 18 syndrome.

Authors: Anna Cereda; John C Carey
Journal: Orphanet J Rare Dis Date: 2012-10-23 Impact factor: 4.123

7. Ocular manifestations in Edward's syndrome, a case report and literature review.

Authors: Arash Mirmohammadsadeghi; Mohammad Reza Akbari; Afsaneh Malekpoor
Journal: J Curr Ophthalmol Date: 2017-07-15

7 in total