Literature DB >> 3814568

A corneal abnormality associated with trisomy 8 mosaicism syndrome.

D J Stark, D W Gilmore, J C Vance, J H Pearn.   

Abstract

Eye abnormalities are a significant feature of trisomy 8 mosaicism syndrome. This paper gives the first account of the specific histopathology of a corneal opacity which is characteristic of this syndrome. The importance of early recognition is stressed because of potential therapeutic visual improvement. The necessity of including mosaic trisomy 8 in the differential diagnosis of such corneal opacities is illustrated by this case.

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Year:  1987        PMID： 3814568      PMCID： PMC1041079          DOI： 10.1136/bjo.71.1.29

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


  14 in total

1.  Trisomy 8 syndrome.

Authors:  S B Cassidy; B J McGee; J van Eys; W E Nance; E Engel
Journal:  Pediatrics       Date:  1975-11       Impact factor: 7.124

2.  Peters anomaly with pulmonary hypoplasia.

Authors:  M J Bull; J L Baum
Journal:  Birth Defects Orig Artic Ser       Date:  1976

3.  Trisomy 8: an international study of 70 patients.

Authors:  V M Riccardi
Journal:  Birth Defects Orig Artic Ser       Date:  1977

4.  Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.

Authors:  T Caspersson; J Lindsten; L Zech; K E Buckton; W H Price
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

5.  Autosomal-dominant inheritance of megalocornea associated with down's syndrome.

Authors:  G L Rogers; R C Polomeno
Journal:  Am J Ophthalmol       Date:  1974-09       Impact factor: 5.258

6.  Congenital corneal leukomas. 1. Central defect in Descemet's membrane.

Authors:  W M Townsend
Journal:  Am J Ophthalmol       Date:  1974-01       Impact factor: 5.258

7.  Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?

Authors:  Y Frank; M Ziprkowski; A Romano; R Stein; M B Katznelson; B Cohen; R M Goodman
Journal:  J Genet Hum       Date:  1973-06

8.  Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism.

Authors:  V M Riccardi; L Atkins; L B Holmes
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406

9.  Corneal opacities--a diagnostic feature of the trisomy 8 mosaic syndrome.

Authors:  M Frangoulis; D Taylor
Journal:  Br J Ophthalmol       Date:  1983-09       Impact factor: 4.638

10.  Anterior chamber cleavage syndrome. A stepladder classification.

Authors:  G O Waring; M M Rodrigues; P R Laibson
Journal:  Surv Ophthalmol       Date:  1975 Jul-Aug       Impact factor: 6.048
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  4 in total

1.  The association of maternal factors with epibulbar dermoid of newborn: a retrospective, matched case-control study.

Authors:  S Wu; Y Fan; D Wu; J Hong; J Xu
Journal:  Eye (Lond)       Date:  2017-03-24       Impact factor: 3.775

2.  Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome.

Authors:  P Kapaun; H Kabisch; K R Held; T A Walter; S Hegewisch; A R Zander
Journal:  Ann Hematol       Date:  1993-01       Impact factor: 3.673

Review 3.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

Review 4.  Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Authors:  Virginia Miraldi Utz; Diana S Brightman; Monica A Sandoval; Robert B Hufnagel; Howard M Saal
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-05       Impact factor: 3.359
  4 in total

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