As molecular diagnosis of Osteogenesis Imperfecta has become more accessible, there is an increasing ability to consider additional techniques to undertake deep phenotyping of the patient.

In this report, we present the details of a female patient with type I Osteogenesis Imperfecta caused due to a pathogenic COL1A1 variant, who suffered from uterine rupture during labour in her second pregnancy, at age 33. Her presentation, patient journey, and histological results are described. Collagen flowers were identified with electron microscopy of a skin biopsy, and the significance of these are explored. Two other recorded cases of women with Osteogenesis Imperfecta who developed uterine rupture are discussed.

This report demonstrates the potential role for ultrastructural tissue examination and deep phenotyping, to allow further insights into the relationship between genotype and phenotype.

随着成骨不全症的分子诊断变得越来越容易，考虑采用其他技术对患者进行深表型化的能力越来越强。

在此报告中，我们详细介绍了由病原性COL1A1变异引起的I型成骨不全女性患者的详细信息，该患者在33岁的第二次怀孕中分娩时发生子宫破裂。她的病情，患者历程和组织学结果描述。用皮肤活检的电子显微镜鉴定胶原蛋白的花，并探讨其重要性。讨论了另外两个记录的女性成骨不全症患者发生子宫破裂的病例。

该报告证明了超微结构组织检查和深表型的潜在作用，以便进一步了解基因型和表型之间的关系。