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

Authors

Kai Xia Li, Xiao Yan Zhou

Published in

Journal of medical case reports. Jul 03, 2026. Epub Jul 03, 2026.

Abstract

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 genotype-phenotype spectrum of this ciliopathy.
A 22-year-old Han Chinese woman conceived naturally. Prenatal ultrasound revealed multiple fetal congenital anomalies, including limb shortening, generalized fetal edema, cystic hygroma, and bilateral echogenic kidneys. Whole-exome sequencing revealed two bi-parental inherited compound heterozygous variants in WDR35: [c.1600C > T (p.Arg534Cys)] and [c.2375_2383del (p.Asn792_ Ala794del)]. The couple ultimately opted to terminate the pregnancy.
The WDR35 mutations are associated with CED and exhibit a complex prenatal phenotype. Comprehensive prenatal ultrasound, whole-exome sequencing, and multidisciplinary genetic counseling are essential for accurate diagnosis and informed reproductive counseling.

PMID:
42400031
Bibliographic data and abstract were imported from PubMed on 04 Jul 2026.

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