The purpose of this case report is to report the orthodontic surgical treatment and subsequent dental rehabilitation in two patients with Axenfeld-Rieger syndrome. Axenfeld-Rieger syndrome is a rare autosomal dominant condition characterized by ocular, dental, craniofacial, and periumbilical abnormalities. The treatment of two patients with various anomalies in Axenfeld-Rieger syndrome is described and discussed. Early recognition of the syndrome and referral during childhood to a specialized oral and maxillofacial surgery, special dental care, and orthodontic unit provide the optimal starting point for this complex treatment.
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Anterior segment dysgenesis (ASD) defines a collection of congenital eye disorders that affect structures within the anterior segment of the eye. Mutations in genes that initiate and regulate the complex pathways involved in eye development can cause a spectrum of disorders such as ASD, congenital cataracts and corneal opacity. In South Africa, causes of ASD are poorly understood with few studies looking at the possible genetic basis for these disorders.
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Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
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Article Synopsis
- - Axenfeld-Rieger syndrome (ARS) is a genetic disorder with eye and systemic symptoms, showing variability among patients; this study presents two cases (a boy and his mother) with a new genetic variant linked to ARS.
- - The proband, a 3-month-old boy, exhibited several abnormalities including eye development issues, skin and dental problems, and a heart condition, while his mother has been blind since age 12; genetic testing revealed a specific deletion in their DNA.
- - The findings indicate that this deletion leads to ARS phenotype type I, highlighting that certain genetic mutations in the affected gene are common causes of the disorder, thus improving understanding of ARS manifestations.
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