Sara J. E. Verdonk

Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review

L. Ventura, Sara J. E. Verdonk, Lidiia Zhytnik, Angela Ridwan-Pramana et autres

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by fragile bones and skeletal deformities. Individuals with OI may have dental abnormalities such as dentinogenesis imperfecta (DI) type I, malocclusions, and unerupted or missing teeth. This review comprehensively examines these dental abnormalities …

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Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology

Sara J. E. Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha et autres

INTRODUCTION: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II …

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Polarization-sensitive optical coherence tomography and scleral collagen fiber orientation in osteogenesis imperfecta

Sara J. E. Verdonk, Joy Willemse, Vincent S. Zoutenbier, Sanne Treurniet et autres

Osteogenesis imperfecta (OI), a rare genetic connective tissue disorder, primarily arises from pathogenic variants affecting the production or structure of collagen type I. In addition to skeletal fragility, individuals with OI may face an increased risk of developing ophthalmic diseases. This association …

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Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature

Sara J. E. Verdonk, Silvia Storoni, Dimitra Micha, Joost G. van den Aardweg et autres

Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive …

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Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

Silvia Storoni, Sara J. E. Verdonk, Dimitra Micha, Patrick M. C. Jak et autres

Introduction: Respiratory insufficiency is a leading cause of death in individuals with osteogenesis imperfecta (OI). However, evaluating pulmonary function in OI presents challenges. Commonly used pulmonary function tests such as spirometry and body plethysmography are sometimes difficult to perform for OI patients, …

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Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

Silvia Storoni, Luca Celli, Marjolein Breur, Dimitra Micha et autres

Pulmonary hypoplasia and respiratory failure are primary causes of death in patients with osteogenesis imperfecta (OI) type II. OI is a genetic skeletal disorder caused by pathogenic variants in genes encoding collagen type I. It is still unknown if the collagen defect …

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Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1

Sara J. E. Verdonk, Silvia Storoni, Lidiia Zhytnik, Wenchao Zhong et autres

Pathogenic variants in the LRP5, PLS3, or WNT1 genes can significantly affect bone mineral density, causing monogenic osteoporosis. Much remains to be discovered about the phenotype and medical care needs of these patients. The purpose of this study was to examine the …

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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

Silvia Storoni, Sara J. E. Verdonk, Lidiia Zhytnik, Gerard Pals et autres

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the synthesis of type I collagen. Efforts to classify the high clinical variability in OI led to the Sillence classification. However, …

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Estradiol reference intervals in women during the menstrual cycle, postmenopausal women and men using an LC-MS/MS method

Sara J. E. Verdonk, Hubert W. Vesper, Frans Martens, Patrick M. Sluss et autres

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