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一例成骨不全新生儿多发骨折病例报告

A Newborn with Multiple Fractures in Osteogenesis Imperfecta: A Case Report.

作者信息

Bayram Serkan, Mert Lezgin, Anarat Fikret Berkan, Chodza Mechmed, Ergin Ömer Naci

机构信息

Department of Orthopedic and Traumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

出版信息

J Orthop Case Rep. 2018 May-Jun;8(3):71-73. doi: 10.13107/jocr.2250-0685.1116.

DOI:10.13107/jocr.2250-0685.1116
PMID:30584522
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6298723/
Abstract

INTRODUCTION

Multiple bone fractures in a newborn can be associated with osteogenesis imperfect (OI). OI is a rare genetic disorder that causes Type I collagen synthesis disturbance results in bone fragility.

CASE REPORT

We present a female newborn which had numerous fractures of the humerus, bilateral clavicle, and bilateral femur. Her delivery was at 36 weeks gestation by spontaneous vaginal delivery. She had has not any pathological symptom at 2 weeks after birth, the patient had a fracture of the humerus, bilateral clavicle, and femur without any trauma. Genetic analysis of the patient was reported and OI diagnosed. The patient was followed up for 8 months with regularly and without any complication.

CONCLUSION

Multiple fractures with OI in an infant after birth may require an accurate orthopedic plan for diagnosing and treatment.

摘要

引言

新生儿多发性骨折可能与成骨不全(OI)有关。OI是一种罕见的遗传性疾病,会导致I型胶原蛋白合成紊乱,从而导致骨骼脆弱。

病例报告

我们报告一名女性新生儿,其肱骨、双侧锁骨和双侧股骨多处骨折。她在妊娠36周时通过自然阴道分娩。出生后2周她没有任何病理症状,在没有任何外伤情况下出现了肱骨、双侧锁骨和股骨骨折。对该患者进行了基因分析,诊断为OI。对患者进行了8个月的定期随访,未出现任何并发症。

结论

出生后婴儿患有OI的多发性骨折可能需要准确的骨科诊疗方案来进行诊断和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/7daa9015af40/JOCR-8-71-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/9d725b60a856/JOCR-8-71-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/aa26e97c23aa/JOCR-8-71-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/7daa9015af40/JOCR-8-71-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/9d725b60a856/JOCR-8-71-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/aa26e97c23aa/JOCR-8-71-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9e/6298723/7daa9015af40/JOCR-8-71-g003.jpg

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