title: Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.
abstract: Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002-2011 at our center. The study population consisted of fetuses diagnosed with skeletal dysplasia with subsequent termination, stillbirth and live-born who died shortly after birth. Of the 2002 autopsies performed, 112 (5.6%) were diagnosed with skeletal dysplasia. These 112 cases encompassed 17 of 40 groups of Nosology 2010. The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)]. The most common specific diagnoses were thanatophoric dysplasia (TD) type 1 [20 (17.9%)], and OI type 2 [20 (17.9%)]. The combined radiology, pathology, and genetic investigations and grouping the cases using Nosology 2010 resulted in a specific diagnosis in 96 of 112 cases.
authors.affiliation: Department of Medical Imaging, South Shore Regional Hospital, Bridgewater, Nova Scotia, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Barkova
authors.forename: U
authors.initials: U
authors.lastname: Mohan
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: S
authors.initials: S
authors.lastname: Keating
authors.forename: A
authors.initials: A
authors.lastname: Toi
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: R
authors.initials: R
authors.lastname: Frank
authors.forename: G
authors.initials: G
authors.lastname: Tomlinson
authors.forename: P
authors.initials: P
authors.lastname: Glanc
mesh_terms: D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000145:classification / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology*; D005315:Fetal Diseases / Q000145:classification / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D009864:Ontario / Q000453:epidemiology; D012189:Retrospective Studies; D062606:Tertiary Care Centers
keywords: autopsy; fetal musculoskeletal dysplasia; molecular analysis; osteochondrodysplasia; pathology; prenatal diagnosis; radiology; skeletal dysplasias