ReviewJournal of medical case reports2026
Prenatal diagnosis of cranioectodermal dysplasia: a case report and review of the literature.
Review in Journal of medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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2 authors.
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Abstract
backgroundCranioectodermal 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.
conclusionThe 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.
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