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Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Daniel Thomas Ginat1

  • 1Department of Radiology, University of Chicago, Pritzker School of Medicine, 5841 South Maryland Avenue, Chicago, IL 60637, USA.

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|November 24, 2018
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Summary

Congenital syndromes frequently affect the temporal bone, often presenting with overlapping features. This review highlights key imaging findings for diagnosing these syndromes and associated hearing loss.

Keywords:
AnomaliesImagingSyndromeTemporal bone

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Area of Science:

  • Medical Imaging
  • Genetics
  • Otolaryngology

Background:

  • Congenital syndromes encompass diverse conditions affecting temporal bone development.
  • Embryologic abnormalities, like branchial anomalies, contribute to overlapping clinical and imaging features.
  • Hearing deficits are a common manifestation in patients with congenital syndromes.

Purpose of the Study:

  • To review the diagnostic imaging features of congenital syndromes involving the temporal bone.
  • To correlate imaging findings with specific syndromes and associated hearing loss.
  • To provide a resource for clinicians managing patients with these complex conditions.

Main Methods:

  • Review of medical literature on congenital syndromes and temporal bone abnormalities.
  • Analysis of imaging characteristics (CT, MRI) in selected syndromes.
  • Synthesis of key imaging findings for each syndrome discussed.

Main Results:

  • Detailed imaging features are presented for Treacher Collins syndrome, oculo-auriculo-vertebral dysplasia spectrum, Klippel-Feil syndrome, branchio-oto-renal syndrome, Pierre Robin sequence, CHARGE syndrome, Pendred syndrome, Down syndrome, Trisomy 18, Turner syndrome, and neurofibromatosis type 2.
  • Common temporal bone abnormalities include malformations of the ossicles, external auditory canal, and inner ear structures.
  • Imaging plays a crucial role in identifying the extent of temporal bone involvement and guiding management.

Conclusions:

  • Congenital syndromes frequently present with characteristic temporal bone abnormalities.
  • Diagnostic imaging is essential for accurate diagnosis and management of hearing deficits in these syndromes.
  • Understanding the spectrum of imaging findings aids in differentiating and managing various congenital temporal bone abnormalities.