Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy |
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| Authors: | U Wester G Brandberg M Larsson T Lönnerholm G Annerén |
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| Institution: | 1. Unit of Paediatrics, Department of Women and Child Heath, Uppsala University, Uppsala, Sweden;2. Children's Habilitation Clinic, Hedemora, Sweden;3. Unit of Radiology, Department of Oncology, Radiology and Clinical Immunology, Uppsala University, Uppsala, Sweden;4. Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden |
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| Abstract: | We describe a 2-year-old boy with chondrodysplasia punctata (CDP). The boy was exposed to phenytoin, in combination with carbamazepine, during pregnancy. There has been previous evidence for a connection between phenytoin exposure during pregnancy and chondrodysplasia punctata. The boy had clinical and some radiological characteristic features of CDP, of the tibia-metacarpal type. We know of no other report on a child exposed to phenytoin during pregnancy who developed CDP of this type. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | chondrodysplasia punctata tibia-metacarpal type phenytoin pregnancy |
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