Prenatal diagnosis of cranioectodermal dysplasia: a case report and review of the literature.

doi:10.1186/s13256-026-06295-2

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Article

Prenatal diagnosis of cranioectodermal dysplasia: a case report and review of the literature.

Journal of medical case reports - 3 Jul 2026

Li Kai Xia, Zhou Xiao Yan

Abstract excerpt

BACKGROUND: Cranioectodermal dysplasia (CED) (OMIM #218330) is an autosomal recessive multisystemic disorder. While many studies have diagnosed this condition postnatally, few cases have been identified during the prenatal period. This study aimed to investigate genetic mutations in a Han Chinese fetus and conduct a literature review, integrating ultrasonographic findings with molecular analysis to expand the...

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Topics

Humans
Female
Pregnancy
Ultrasonography, Prenatal
Young Adult
Ectodermal Dysplasia
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Cytoskeletal Proteins

Intracellular Signaling Peptides and Proteins

Exome Sequencing

Prenatal Diagnosis

Proteins

Bone and Bones

Craniosynostoses

Source

Open in PubMed Open full text

Identifiers

PMID: 42400031
DOI: 10.1186/s13256-026-06295-2
PMCID: PMC13602781

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