Answers are grounded in this paper and cite their sources.
Osteogenesis Imperfecta (OI) is characterized primarily by liability to fractures. It is a clinically and genetically heterogeneous connective tissue disorder. Osteogenesis imperfecta type 2 is the lethal type of OI and is often caused by a heterozygous mutation in either the COL1A1 or the COL1A2 gene. We report a newborn with osteogenesis imperfecta type IIA and discuss the differential diagnoseis which consist of other lethal skeletal dysplasias.
No takes yet. Share an insight, caveat, or question.
A 2015 study studied this question.
Synapse has enriched 8 related papers. Consider them for comparative context: