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Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia

Khan, Arif O. and Schatz, Patrik LU orcid (2019) In JAAPOS 23(2). p.101-102
Abstract

Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and joint contractures. Recessive Weill-Marchesani syndrome typically includes spherophakia, but the ocular phenotype of recessive geleophysic dysplasia is not well defined. We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations). Features included high corneal astigmatism, accommodative esotropia, unilateral Brown syndrome, and no evidence for zonular disease at 12 years of age.

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author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
JAAPOS
volume
23
issue
2
pages
101 - 102
publisher
Elsevier
external identifiers
  • scopus:85060672809
  • pmid:30415012
ISSN
1091-8531
DOI
10.1016/j.jaapos.2018.07.354
language
English
LU publication?
yes
id
d3c0c3c2-d93e-49b8-abff-a71ae7f03ab6
date added to LUP
2019-02-07 08:25:53
date last changed
2024-04-30 00:38:35
@article{d3c0c3c2-d93e-49b8-abff-a71ae7f03ab6,
  abstract     = {{<p>Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and joint contractures. Recessive Weill-Marchesani syndrome typically includes spherophakia, but the ocular phenotype of recessive geleophysic dysplasia is not well defined. We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations). Features included high corneal astigmatism, accommodative esotropia, unilateral Brown syndrome, and no evidence for zonular disease at 12 years of age.</p>}},
  author       = {{Khan, Arif O. and Schatz, Patrik}},
  issn         = {{1091-8531}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{101--102}},
  publisher    = {{Elsevier}},
  series       = {{JAAPOS}},
  title        = {{Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia}},
  url          = {{http://dx.doi.org/10.1016/j.jaapos.2018.07.354}},
  doi          = {{10.1016/j.jaapos.2018.07.354}},
  volume       = {{23}},
  year         = {{2019}},
}