Presentation of rare genetic disorders: case series using segmented 3-dimensional (3D) models from cone beam computed tomography

Abstract

Objective

This abstract presents a case report and case series showcasing the use of segmented 3-dimensional (3D) models to identify key features in achondroplasia, Goldenhar syndrome, ectodermal dysplasia, and Down syndrome, without relying on clinical information.

Clinical Presentation

Instead of providing clinical details, this study focuses solely on the visual representation of segmented 3D models derived from cone beam computed tomography imaging. Each model accurately represents the unique facial characteristics associated with achondroplasia, Goldenhar syndrome, ectodermal dysplasia, and Down syndrome.

Differential Diagnosis

The differential diagnosis section is omitted from this abstract since the purpose is to showcase the visual representation of the syndromes rather than discussing potential diagnostic possibilities.

Diagnosis and Management

The histopathologic findings and treatment outcomes are not discussed in this abstract, as the focus is on utilizing segmented 3D models to identify distinct features of each syndrome.

Conclusion

This abstract highlights the use of segmented 3D models to visually represent achondroplasia, Goldenhar syndrome, ectodermal dysplasia, and Down syndrome. By visually presenting the unique facial characteristics associated with these syndromes, the models contribute to a better understanding and recognition of these rare genetic disorders. The use of segmented 3D models has the potential to enhance diagnosis, education, and research in the field of genetic syndromes.