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Prenat Diagn. 2007 Jun;27(6):566-7.

Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.

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  • 1Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.


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.

(c) 2007 John Wiley & Sons, Ltd.

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