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Background <p>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.</p> Case presentation <p>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&#xa0;inherited compound heterozygous variants in WDR35: [c.1600C &gt; T (p.Arg534Cys)] and [c.2375_2383del (p.Asn792_ Ala794del)]. The couple ultimately opted to terminate the pregnancy. </p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月3日

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  • Kai Xia Li,
  • Xiao Yan Zhou

摘要

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 genotype–phenotype spectrum of this ciliopathy.

Case presentation

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.

Conclusion

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.