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

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.

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Publication Details

Journal
Journal of Clinical Ultrasound
Published
2025-08-12
DOI
https://doi.org/10.1002/jcu.70033
Primary Topic
dental development and anomalies
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Heming Wu, Lingna She, Man Yang, Kai Liu et al.
Journal of Clinical Ultrasound
dental development and anomalies
article

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

Heming Wu, Lingna She, Man Yang, Kai Liu, Liyan Chen
article en

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.

Journal of Clinical UltrasoundVol. 54(1)
Meizhou City People's Hospital (CN)
Basic and Applied Basic Research Foundation of Guangdong Province
Openalex Percentile: Top 82%
dental development and anomalies
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