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Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound |
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| Authors: | Simon Holden Sapna Ahuja Amanda Ogilvy-Stuart Helen V Firth Christoph Lees |
| Institution: | 1. Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
Department of Clinical Genetics, Guy's Hospital, London, UK;2. Department of Obstetrics and Gynaecology, Maternal-Fetal Medicine Division, Addenbrooke's Hospital, Cambridge, UK;3. Neonatal Intensive Care Unit, Addenbrooke's Hospital, Cambridge, UK;4. Department 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. Copyright © 2007 John Wiley & Sons, Ltd. |
| Keywords: | Harlequin ichthyosis arthrogryposis distal contractures prenatal diagnosis 3-D ultrasonography |