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Improved antenatal imaging has led to increased detection rates of fetal limb anomalies. While they are nonlethal, they could be the first indication of an underlying genetic disorder. In the event of termination, postmortem and genetic evaluation are rarely performed, missing the opportunity to diagnose genetic disorders. The aim of the present study was to examine the utility of fetal autopsy in...
Carpenter syndrome is a rare autosomal recessive disorder characterized by craniosynostosis, polydactyly and syndactyly. The gene Rab23 was identified in 2007, following which there have been only four reports describing different types of mutations. The authors describe herein a case that was diagnosed solely on the basis of history, antenatal ultrasound findings and fetal photographs taken by a...
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