Prenatal Detection of Cleidocranial Dysplasia: A Case Report Highlighting the Importance of Exploring Insignificant Ultrasound Signs-Reference-Cited by-同舟云学术

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

Published:2024-04 Issue:01 Volume:11 Page:058-061
ISSN:2348-1153
Container-title:Journal of Fetal Medicine
language:en
Short-container-title:Journal of Fetal Medicine

Author:

Roy Prasanna¹,Dey Shankar¹^ORCID

Affiliation:

1. Department of Fetal Medicine, Ultra Clinic, Fetal Medicine & Fertility Centre, Asansol, West Bengal, India

Abstract

AbstractCleidocranial 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.

Publisher

Georg Thieme Verlag KG

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0044-1786169.pdf

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