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- Title
Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.
- Authors
Barkova, E.; Mohan, U.; Chitayat, D.; Keating, S.; Toi, A.; Frank, J.; Frank, R.; Tomlinson, G.; Glanc, P.
- 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.
- Subjects
SKELETAL dysplasia; GENETIC disorders; BONE diseases; OSTEOCHONDRODYSPLASIAS; MOLECULAR pathology; TERTIARY care
- Publication
Clinical Genetics, 2015, Vol 87, Issue 4, p330
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12434