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Updated: Jul 16, 2026

A Novel Use of Three-dimensional High-frequency Ultrasonography for Early Pregnancy Characterization in the Mouse
Published on: October 24, 2017
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound
Simon Holden1, Sapna Ahuja, Amanda Ogilvy-Stuart
1Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Abstract:
We describe a case of Harlequin Icthyosis where the main 2D and 3D ultrasound findings were digital contractures as opposed to the more commonly described severe facial dysmorphisms. A prenatal finding of distal arthrogryposis can therefore include harlequin icthyosis as a differential diagnosis, where 3D ultrasound may then disclose the facial features more commonly associated with the condition.
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