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.