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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2024; 11(01): 058-061
DOI: 10.1055/s-0044-1786169
Case Report

Prenatal Detection of Cleidocranial Dysplasia: A Case Report Highlighting the Importance of Exploring Insignificant Ultrasound Signs

Prasanna Roy
1   Department of Fetal Medicine, Ultra Clinic, Fetal Medicine & Fertility Centre, Asansol, West Bengal, India
,
Shankar Dey 
1   Department of Fetal Medicine, Ultra Clinic, Fetal Medicine & Fertility Centre, Asansol, West Bengal, India
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Abstract

Cleidocranial dysplasia is a rare autosomal dominant skeletal disorder characterized by clavicular hypoplasia, delayed closure of fontanels, dental abnormalities, and other skeletal anomalies. This case report presents the prenatal detection of cleidocranial dysplasia by exploring a subtle abnormality during routine prenatal ultrasound examination, subsequent genetic confirmation, and postabortal X-ray analysis. The aim is to emphasize the importance of taking into account any apparently insignificant ultrasound finding to diagnose a fetal genetic abnormality.

Keywords

cleidocranial dysplasia - supernumerary ribs - 3D ultrasound - amniocentesis - microarray


Publikationsverlauf

Artikel online veröffentlicht:
19. April 2024

© 2024. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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