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A Rare Case of Achondroplasia With Bilateral Developmental Cataract

Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and c...

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Autores principales: Bagewadi, Rasika, Tidake, Pravin, Jeria, Sandhya, Wanjari, Mayur B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951635/
https://www.ncbi.nlm.nih.gov/pubmed/36843807
http://dx.doi.org/10.7759/cureus.34191
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author Bagewadi, Rasika
Tidake, Pravin
Jeria, Sandhya
Wanjari, Mayur B
author_facet Bagewadi, Rasika
Tidake, Pravin
Jeria, Sandhya
Wanjari, Mayur B
author_sort Bagewadi, Rasika
collection PubMed
description Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and cone-rod dystrophy. A 25-year-old female presented to the Ophthalmology outpatient department (OPD) with the classical clinical signs of achondroplasia and developmental cataracts in both eyes. She also had associated esotropia in the left eye. Achondroplasia patients should be screened for developmental cataracts to enable timely intervention and management.
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spelling pubmed-99516352023-02-25 A Rare Case of Achondroplasia With Bilateral Developmental Cataract Bagewadi, Rasika Tidake, Pravin Jeria, Sandhya Wanjari, Mayur B Cureus Genetics Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and cone-rod dystrophy. A 25-year-old female presented to the Ophthalmology outpatient department (OPD) with the classical clinical signs of achondroplasia and developmental cataracts in both eyes. She also had associated esotropia in the left eye. Achondroplasia patients should be screened for developmental cataracts to enable timely intervention and management. Cureus 2023-01-25 /pmc/articles/PMC9951635/ /pubmed/36843807 http://dx.doi.org/10.7759/cureus.34191 Text en Copyright © 2023, Bagewadi et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Bagewadi, Rasika
Tidake, Pravin
Jeria, Sandhya
Wanjari, Mayur B
A Rare Case of Achondroplasia With Bilateral Developmental Cataract
title A Rare Case of Achondroplasia With Bilateral Developmental Cataract
title_full A Rare Case of Achondroplasia With Bilateral Developmental Cataract
title_fullStr A Rare Case of Achondroplasia With Bilateral Developmental Cataract
title_full_unstemmed A Rare Case of Achondroplasia With Bilateral Developmental Cataract
title_short A Rare Case of Achondroplasia With Bilateral Developmental Cataract
title_sort rare case of achondroplasia with bilateral developmental cataract
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951635/
https://www.ncbi.nlm.nih.gov/pubmed/36843807
http://dx.doi.org/10.7759/cureus.34191
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