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.
Authors
- Heming Wu (ORCID: https://orcid.org/0000-0002-1876-9585)
- Lingna She
- Man Yang
- Kai Liu (ORCID: https://orcid.org/0000-0001-5336-7939)
- Liyan Chen (ORCID: https://orcid.org/0000-0002-5255-0296)
Institutions
- Meizhou City People's Hospital (CN)
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
Funders
- Basic and Applied Basic Research Foundation of Guangdong Province