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Skeletal ciliopathies: a pattern recognition approach.

Atsuhiko Handa1, Ulrika Voss2, Anna Hammarsjö3

  • 1Department of Radiology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA. handa-tky@umin.ac.jp.

Japanese Journal of Radiology
|January 23, 2020
PubMed
Summary
This summary is machine-generated.

Skeletal ciliopathies are genetic disorders affecting cilia, causing distinct skeletal and sometimes extraskeletal anomalies. Radiologists can aid diagnosis and research by recognizing specific radiological patterns.

Keywords:
Bone dysplasiaEllis-van creveld syndrome (chondroectodermal dysplasia)Jeune asphyxiating thoracic dysplasiaSensenbrenner syndrome (cranioectodermal dysplasia)Skeletal ciliopathy

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Area of Science:

  • Genetics and Molecular Biology
  • Radiology and Medical Imaging
  • Skeletal Dysplasias

Background:

  • Ciliopathies are genetic disorders stemming from primary cilia gene mutations.
  • Skeletal ciliopathies, a subset, present with characteristic skeletal abnormalities.
  • Common examples include Jeune asphyxiating thoracic dysplasia and short-rib polydactyly syndromes.

Purpose of the Study:

  • To outline a radiological pattern recognition approach for diagnosing skeletal ciliopathies.
  • To inform radiologists about key clinical and genetic features of these disorders.
  • To emphasize the role of radiologists in multidisciplinary care and research advancement.

Main Methods:

  • Review and synthesis of clinical and radiological features of common skeletal ciliopathies.
  • Focus on pattern recognition of distinctive radiological hallmarks.
  • Discussion of associated extraskeletal anomalies and genetic underpinnings.

Main Results:

  • Skeletal ciliopathies share hallmarks: thoracic hypoplasia, disproportionate limbs, short digits, and polydactyly.
  • Radiological findings include narrow thorax, short ribs, shortened tubular bones, and brachydactyly.
  • Associated anomalies can affect kidneys, liver, eyes, heart, and cerebellum.

Conclusions:

  • Radiological pattern recognition is crucial for identifying skeletal ciliopathies.
  • Understanding clinical and genetic aspects empowers radiologists in patient management.
  • Accurate diagnosis facilitates multidisciplinary care and advances research in these complex genetic disorders.