Osteogenesis imperfecta type I: A case report

Ren, Jianmin; Xu, Xiaowei; Jian, Xiangdong; Wang, Jieru

doi:10.3892/etm.2014.1653

Cited by 4 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with mild symptoms have normal quality of life with minor fractures, while those with severe symptoms may be accompanied by severe fractures, physical disability, or even a reduced life span ( 12 ). OI might also cause coagulation dysfunction, airway obstruction, delayed wound healing, and other conditions ( 13 ). Most OI patients are more likely to suffer from multiple fractures in their childhood.…”

Section: Discussionmentioning

confidence: 99%

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Chen

Wei

et al. 2023

Front. Endocrinol.

View full text Add to dashboard Cite

Osteogenesis imperfecta (OI) is a hereditary skeletal dysplasia with an incidence of approximately 1:15,000 to 20,000. OI is usually caused by the mutation of COL1A1 and COL1A2, which would encode the α-chain of type I collagen. OI is clinically characterized by decreased bone mass, increased risk of bone fragility, blue sclerae, and dentinogenesis.Case presentationA 29-year-old male patient was diagnosed with right tibial plateau fracture caused by slight violence. Physical examination revealed the following: height, 140 cm; weight, 70 kg; body mass index (BMI), 35.71 kg/m2; blue sclera and barrel chest were observed. X-ray examination showed left convex deformity of the thoracic vertebrae with reduced thoracic volume. Laboratory examinations revealed a decrease in both vitamin D and blood calcium levels. Bone mineral density (BMD) was lower than the normal range. After the preoperative preparation was completed, the open reduction and internal fixation of the right tibial plateau fracture were performed. Meanwhile, whole blood samples of this OI patient and the normal control were collected for RNA transcriptome sequencing. The RNA sequence analysis revealed that there were 513 differentially expressed genes (DEGs) between this OI patient and the normal control. KEGG-enriched signaling pathways were significantly enriched in extracellular matrix (ECM)–receptor interactions.ConclusionIn this case, DEGs between this OI patient and the normal control were identified by RNA transcriptome sequencing. Moreover, the possible pathogenesis of OI was also explored, which may provide new evidence for the treatment of OI.

show abstract

Section: Discussionmentioning

confidence: 99%

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Chen

Wei

et al. 2023

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

“…The hallmark of OI is an increased vulnerability to fractures ranging from slight to pre-natal. Other common features include a distinct blue sclera, hyper-elastic skin and ligaments, impaired hearing, bone deformities, short statures and dentinogenesis imperfecta (DI) [4]. With an incidence of 1 in 10,000-20,000 births, it also results in abnormal blood coagulation, airway obstruction and cardiovascular anomalies [4].…”

Section: Discussionmentioning

confidence: 99%

“…The various phenotypic variations all result from mutations in one of two genes, COL1A1 and COL1A2 which encode for pro-α1(I) or pro-α2(I) chains of type I collagen [5] which results in defective qualitative or quantitative integrity of type I collagen, the principal protein in bones and the extracellular matrix [4].…”

Section: Discussionmentioning

confidence: 99%

A Unique Association of Osteogenesis Imperfecta with Bilateral Renal Osteodystrophy and Gastroenteritis in a Three-year-old Boy

Ochani¹,

Shaikh²,

Arsalan³

et al. 2019

Cureus

View full text Add to dashboard Cite

We describe a three-year-old male child who presented to the pediatrics out-patient department with a history of decrease in appetite, generalized weakness, on and off loose motions for one year, inability to walk and sit for eight months with a loss of neck holding for 14 days. On examination, the patient had a classic frog-shaped leg posture. X-rays of chest, skull, pelvis and long bones were performed which showed osteopenic bones, frontal bossing and multiple microfractures, which were classic for osteogenesis Imperfecta but the child did not have other salient features such as blue sclera, otosclerosis, and respiratory difficulty. The patient also had urinary complaints due to which ultrasound of kidney ureters and bladder (KUB) was performed, which showed bilateral renal calculi and grade 2 renal parenchymal changes. This case report illustrates the evaluation of the child with osteogenesis imperfecta, as well as the unique association of renal osteodystrophy and gastroenteritis with it.

show abstract

Pamidronic acid

2014

Reactions Weekly

View full text Add to dashboard Cite

Osteogenesis imperfecta type I: A case report

Cited by 4 publications

References 15 publications

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

A Unique Association of Osteogenesis Imperfecta with Bilateral Renal Osteodystrophy and Gastroenteritis in a Three-year-old Boy

Pamidronic acid

Contact Info

Product

Resources

About