Neonatal osteogenesis imperfecta after P3H1 compound heterozygosity novel variant:a case of ovulation induction

NIU Fang; YAN Li; JI Yong-jia

doi:10.3969/j.issn.2095-252X.2025.05.013

Abstract：Objective To investigate a rare case of osteogenesis imperfecta type VIII (OI8) in a neonate and its diagnosis and treatment process. Methods The clinical data of the patient were collected. Exome sequencing (WES) was used to detect gene variations. Relevant literature was searched using the keywords "P3H1", "Osteogenesis Imperfecta", or "osteogenesis imperfecta" in PubMed and Wanfang databases. Results The patient was a female neonate born on day 1 with a body length at the 15th percentile for normal newborns. She presented with light blue sclerae, skull softening, short limbs, and slightly reduced muscle tone in the upper limbs. Imaging revealed short and curved long bones in the limbs, particularly prominent in the tibia and fibula, discontinuous bone formation in the right femur, and irregular bone structure in the 6th and 7th ribs on the right side and the femur on the left side. Laboratory tests showed moderate anemia. At 3 months of age, the sclerae turned light blue and returned to normal after oral iron supplementation. The anemia was corrected. She experienced two fractures without provocation within the first 6 months of life. At 1 year of age, her height and weight were below the 3rd percentile for her peers. She was unable to sit or crawl, and no deciduous teeth was found. WES identified compound heterozygous variants in the P3H1 gene: c.888_c.889delTGinsCAAAGGAAGTCTTCA (p.E297fs*13) and c.940+1G>A, both of which were novel and had not been reported previously. Conclusions This case represents a rare OI8 diagnosis in China, with neonatal diagnosis, treatment, and follow-up, which is helpful in improving understanding of this disease and providing treatment experience.