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Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Sihem Darouich1,2, Aida Masmoudi3
1LR99ES10 Laboratory of Human genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Fetal and Pediatric Pathology
|June 20, 2020
Summary
This study classified fetal skeletal dysplasias (FSD) using radio-pathologic criteria in 72 cases. Osteogenesis imperfecta and FGFR3 chondrodysplasia were the most common FSD, aiding genetic counseling.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Fetal Pathology
Background:
- Fetal skeletal dysplasias (FSD) are a heterogeneous group of congenital disorders affecting bone development.
- Accurate classification of FSD is crucial for understanding prognosis and genetic counseling.
Purpose of the Study:
- To classify fetal skeletal dysplasias (FSD) based on radio-pathologic criteria.
- To determine the prevalence and common types of FSD in a large autopsy series.
Main Methods:
- Retrospective analysis of clinicopathologic data from 72 fetuses diagnosed with FSD over an 8-year period.
- Classification of FSD into distinct pathologic groups using radio-pathologic criteria.
Main Results:
- The prevalence of FSD was 1.2 per 100 autopsies.
- Four major groups identified: Osteogenesis imperfecta (29%), FGFR3 chondrodysplasia (25%), Ciliopathies (12%), and Sulfation disorders (10%).
- Thanatophoric dysplasia type 1 and lethal osteogenesis imperfecta were the most frequent types.
Conclusions:
- Radio-pathologic examination is valuable for diagnosing and classifying FSD.
- Accurate classification facilitates targeted genetic counseling for affected families.
- This classification system aids in understanding the spectrum of FSD.
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