Abstract
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.
Original language | English (US) |
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Pages (from-to) | 319-325 |
Number of pages | 7 |
Journal | Fetal and Pediatric Pathology |
Volume | 32 |
Issue number | 5 |
DOIs | |
State | Published - Oct 2013 |
Keywords
- Autosomal recessive
- LEPRE 1 gene
- Osteogenesis imperfecta
- Perinatal form
- Skeletal dysplasia
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Pediatrics, Perinatology, and Child Health