Increased first‐trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis–Van Creveld syndrome)

Abstract

Increased nuchal translucency thickness (NT) is an established sonographic marker of fetal chromosomal abnormality. Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT. We report the first case of fetal Ellis-Van Creveld syndrome presenting as raised fetal NT at 13 weeks' gestation. Ultrasonography at 18 weeks' gestation demonstrated a narrow thorax, marked shortening of the long bones with bowed femora and hexadactyly of hands and feet. Pregnancy was terminated at 23 weeks' gestation. The postmortem radiological examination revealed short and bowed long bones with rounded metaphyses, postaxial polydactyly of hands and feet, short ribs and narrow thorax. The acetabular roofs were horizontal with medial and lateral spurs. This case adds a further type of severe skeletal dysplasia to the list of genetic syndromes which may present as increased fetal NT in the late first trimester.