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Oculodentodigital dysplasia. A case report
1Department of Head and Neck Pathology, Oral Cavity and Audio-Verbal Communication, Second University of Naples, Naples, Italy. angelo.itro@unina2.it
Minerva Stomatologica
|October 8, 2005
Summary
Oculodentodigital (ODD) dysplasia is a rare genetic disorder affecting facial, dental, and limb development. Early diagnosis and dental intervention are crucial for managing this condition.
Area of Science:
- Genetics
- Medical Case Report
Background:
- Oculodentodigital (ODD) dysplasia is an autosomal dominant disorder.
- It is associated with mutations in the GJA1 gene, encoding connexin 43.
- The condition affects multiple systems, including craniofacial, ocular, dental, and limb structures.
Observation:
- A rare case of ODD dysplasia is presented.
- The patient exhibited bilateral microphthalmia, microcornea, syndactyly, and characteristic facial anomalies.
- Dental findings included enamel hypoplasia.
Findings:
- The case highlights the complex phenotypic presentation of ODD dysplasia.
- Specific anomalies observed were a small nose with hypoplastic alae, choanal stenosis, micrognathia, and an ogival palate.
- Connexin 43 gene alterations on chromosome 6q22-q23 are implicated.
Implications:
- Recognizing the key features of ODD dysplasia is vital for accurate diagnosis.
- Multidisciplinary management, including dental care, is important for patients with ODD dysplasia.
- Understanding the genetic basis and clinical manifestations aids in patient care and genetic counseling.