Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
Joint Authors
Couser, Natario L.
Kumar, Virang
Pandya, Arti
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-16, 16 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-06
Country of Publication
Egypt
No. of Pages
16
Main Subjects
Abstract EN
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities.
We performed an extensive literature review to highlight key eye features in patients with ODDD and report a new case of a female patient with a heterozygous missense GJA1 mutation (c.65G>A, p.G22E) and clinical features consistent with the condition.
Our patient presented with multiple congenital anomalies including syndactyly, microphthalmia, microcornea, retrognathia, and a small nose with hypoplastic alae and prominent columella; in addition, an omphalocele defect was present, which has not been reported in previous cases.
A systematic review of the published cases to date revealed 91 literature reports of 295 individuals with ODDD.
There were 73 different GJA1 mutations associated with these cases, of which the most common were the following missense mutations: c.605G>A (p.R202H) (11%), c.389T>C (p.I130T) (10%), and c.119C>T (p.A40V) (10%).
Mutations most commonly affect the extracellular-1 and cytoplasmic-1 domains of connexin-43 (gene product of GJA1), predominately manifesting in microphthalmia and microcornea.
The syndrome appears with an approximately equal sex ratio.
The most common eye features reported among all mutations were microcornea, microphthalmia, short palpebral fissures, and glaucoma.
American Psychological Association (APA)
Kumar, Virang& Couser, Natario L.& Pandya, Arti. 2020. Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. Case Reports in Ophthalmological Medicine،Vol. 2020, no. 2020, pp.1-16.
https://search.emarefa.net/detail/BIM-1149632
Modern Language Association (MLA)
Kumar, Virang…[et al.]. Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. Case Reports in Ophthalmological Medicine No. 2020 (2020), pp.1-16.
https://search.emarefa.net/detail/BIM-1149632
American Medical Association (AMA)
Kumar, Virang& Couser, Natario L.& Pandya, Arti. Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. Case Reports in Ophthalmological Medicine. 2020. Vol. 2020, no. 2020, pp.1-16.
https://search.emarefa.net/detail/BIM-1149632
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149632