title: Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy.
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.
authors.affiliation: Unit of Paediatrics, Department of Women and Child Heath, Uppsala University, Uppsala, Sweden.
authors.forename: U
authors.initials: U
authors.lastname: Wester
authors.forename: G
authors.initials: G
authors.lastname: Brandberg
authors.forename: M
authors.initials: M
authors.lastname: Larsson
authors.forename: T
authors.initials: T
authors.lastname: Lönnerholm
authors.forename: G
authors.initials: G
authors.lastname: Annerén
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects*; D002220:Carbamazepine / Q000009:adverse effects*; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000209:etiology*; D019465:Craniofacial Abnormalities / Q000209:etiology; D004827:Epilepsy / Q000188:drug therapy; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008431:Maternal-Fetal Exchange; D008663:Metacarpus / Q000000981:diagnostic imaging; D010672:Phenytoin / Q000009:adverse effects*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy; D011859:Radiography; D013977:Tibia / Q000000981:diagnostic imaging; D014463:Ultrasonography
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D010672:Phenytoin