title: The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.
abstract: The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Thanatophoric dysplasia was the commonest diagnosis made (22), followed by osteogenesis imperfecta type II (four children) and achondroplasia (two children). Eleven other diagnoses each occurred once in the 12 year period. The minimum prevalence range, per live births, of each of the common skeletal dysplasias in Northern Ireland has been calculated; thanatophoric dysplasia 0.80/10,000, osteogenesis imperfecta type II 0.15/10,000 and achondroplasia 0.07/10,000. The prevalence range for thanatophoric dysplasia is much higher than reported in previous studies. We discuss reasons for the prevalence figures obtained.
authors.affiliation: Department of Clinical Genetics, Belfast HSC Trust, Belfast, BT9 7AB, United Kingdom.
authors.forename: Deirdre E
authors.initials: DE
authors.lastname: Donnelly
authors.forename: Vivienne
authors.initials: V
authors.lastname: McConnell
authors.forename: Anne
authors.initials: A
authors.lastname: Paterson
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Morrison
mesh_terms: D005820:Genetic Testing; D006801:Humans; D009660:Northern Ireland / Q000453:epidemiology; D010013:Osteogenesis Imperfecta / Q000453:epidemiology* / Q000235:genetics / Q000401:mortality; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012189:Retrospective Studies; D018570:Risk Assessment; D013796:Thanatophoric Dysplasia / Q000453:epidemiology* / Q000235:genetics / Q000401:mortality
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3