Journal article
A primer on skeletal dysplasias
Japanese journal of radiology, Vol.40(3), pp.245-261
03/01/2022
DOI: 10.1007/s11604-021-01206-5
PMCID: PMC8891206
PMID: 34693503
Abstract
Skeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. They are individually rare, but collectively rather common with an approximate incidence of 1/5000. Thus, radiologists occasionally encounter skeletal dysplasias in their daily practices, and the topic is commonly brought up in radiology board examinations across the world. However, many radiologists and trainees struggle with this issue because of the lack of proper resources. The radiological diagnosis of skeletal dysplasias primarily rests on pattern recognition-a method that is often called the "Aunt Minnie" approach. Most skeletal dysplasias have an identifiable pattern of skeletal changes composed of unique findings and even pathognomonic findings. Thus, skeletal dysplasias are the best example to which the Aunt Minnie approach is readily applicable.
Details
- Title: Subtitle
- A primer on skeletal dysplasias
- Creators
- Atsuhiko Handa - Boston Children's HospitalGen Nishimura - Saitama Medical University HospitalMalia Xin Zhan - University of IowaD. Lee Bennett - University of Iowa Hospitals and ClinicsGeorges Y. El-Khoury - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Japanese journal of radiology, Vol.40(3), pp.245-261
- DOI
- 10.1007/s11604-021-01206-5
- PMID
- 34693503
- PMCID
- PMC8891206
- NLM abbreviation
- Jpn J Radiol
- ISSN
- 1867-1071
- eISSN
- 1867-108X
- Publisher
- Springer Nature
- Number of pages
- 17
- Grant note
- Cum Laude award
- Language
- English
- Date published
- 03/01/2022
- Academic Unit
- Radiology; Surgery
- Record Identifier
- 9984318708702771
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