Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.
Clin Genet
; 87(4): 330-7, 2015 Apr.
Article
in En
| MEDLINE
| ID: mdl-24863959
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Bone Diseases, Developmental
/
Fetal Diseases
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Humans
Country/Region as subject:
America do norte
Language:
En
Journal:
Clin Genet
Year:
2015
Document type:
Article
Affiliation country:
Canada