A newborn combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 with intrauterine fracture: A rare case report

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. In addition, as an inherited connective tissue disorder, OI has a broad clinical spectrum that can overlap with EDS. We report the first case of intrauterine fracture without traumatic triggers in a newborn with OI/EDS overlap syndrome worldwide. A pregnant woman received a routine check-up nine days before delivery, the B-ultrasound result found for the first time that the fetus had multiple fractures throughout the body. During natural delivery, the fracture occurred again due to compression of the birth canal. The newborn baby was treated with continuous bilateral femoral and double upper limb traction, and genetic testing was performed at the same time. After two weeks of traction treatment, callus appeared around the fracture site. The genetic testing results demonstrated that the newborn had a point mutation (NM_000088.4:exon49:c.3827T>G) at the chromosomal location of the COL1A1 gene (Chr17:50186495) ，which confirmed that the diagnosis of OI and EDS. Our findings expand the spectrum of genotypes and clinical symptoms of OI/EDS overlap syndrome. In addition, regular and appropriate prenatal diagnoses are recommended in the detection of neonatal genetic diseases.