Work

Prenatal Ultrasound Findings of X‐Linked Hypohidrotic Ectodermal Dysplasia: A Case Report

Year: 2025

Type: article

Abstract: X-linked hypohidrotic ectodermal dysplasia (HED) is a rare congenital hereditary disorder primarily affecting ectodermal-derived organs, including hair, sweat glands, and teeth. This case report presents a prenatal diagnosis of HED in a fetus without a familial history or parental phenotypic manifestations. The critical prenatal ultrasound finding was an abnormality in the alveolar bone. Genetic testing confirmed the fetus as a hemizygote for a mutation in the ectodysplasin A gene. This comprehensive study delineates the prenatal ultrasound observations, genetic testing outcomes, and post-mortem pathological findings associated with this syndrome. We also highlight essential considerations for early diagnosis through prenatal ultrasound examinations.

Source: Journal of Clinical Ultrasound

DOI: 10.1002/jcu.70033

Authors: Lingna She, Man Yang, Heming Wu, Kaiyi Liu, Liyan Chen

Institution: Meizhou City People's Hospital

Language: English

Topic: dental development and anomalies

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Basic and Applied Basic Research Foundation of Guangdong Province