title: Analysis of skeletal dysplasias in the Utah population.
abstract: The Utah Birth Defect Network (UBDN) collects population-based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and epidemiologic characteristics/outcomes were evaluated. Cases categorized as a skeletal dysplasia from all live births, stillbirths, and pregnancy terminations (TAB) between 1999 and 2008 were reviewed by three clinical geneticists. After case review, 153 were included for analysis (88% live births, 3% stillborn, 9% TAB), and categorized by groupings defined by molecular, biochemical, and/or radiographic criteria as outlined in the 2010 Nosology and Classification of Genetic Skeletal Disorders. The overall prevalence for skeletal dysplasias was 3.0 per 10,000 births, and 20.0 per 10,000 stillbirths. The most common diagnostic groups were osteogenesis imperfecta (OI; n = 40; 0.79 per 10,000), thanatophoric dysplasia (n = 22; 0.43 per 10,000), achondroplasia (n = 18; 0.35 per 10,000), and cleidocranial dysplasia (n = 6; 0.12 per 10,000). The most common groups based on the 2010 Nosology and Classification of Genetic Skeletal Disorders were the FGFR3 chondrodysplasia group (n = 41; 0.81 per 10,000), the OI/decreased bone density group (n = 40; 0.79 per 10,000), and the type 2 collagen group (n = 10; 0.2 per 10,000). Median age of postnatal diagnosis was 30 days (range 1-2,162). Of those deceased, 88% were prenatally suspected; of those alive 29% prenatally suspected. Median age of death for live born individuals was 1 day (range 1-1,450 days). Previously reported prevalence rates vary, but our data provide a population-based approach not limited to the perinatal/neonatal period. Understanding the range for survival within each group/diagnosis is beneficial for health care providers when counseling families.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Janice L B
authors.initials: JL
authors.lastname: Byrne
authors.forename: Sivithee
authors.initials: S
authors.lastname: Srisukhumbowornchai
authors.forename: Marcia L
authors.initials: ML
authors.lastname: Feldkamp
mesh_terms: D000130:Achondroplasia; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality; D002675:Child, Preschool; D002965:Classification; D002973:Cleidocranial Dysplasia; D003625:Data Collection; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta; D011247:Pregnancy; D015995:Prevalence; D015996:Survival Rate; D013796:Thanatophoric Dysplasia; D014589:Utah / Q000453:epidemiology