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一名患有急性呼吸窘迫综合征的10岁儿童的Ⅲ型成骨不全症

Osteogenesis Imperfecta Type 3 in a 10-Year-Old Child With Acute Respiratory Distress Syndrome.

作者信息

Augustin Delange, Augustin Delange Hendrick, David Daniel, Théodas Jefferson Arnold, Derisier Albertini Fritzlet

机构信息

Radiology, Hôpital d l'Universite d'Etat d'Haiti (HUEH), Port-au-Prince, HTI.

Orthopedics and Traumatology, Hôpital Universitaire la Paix (HUP), Port au Prince, HTI.

出版信息

Cureus. 2022 Feb 14;14(2):e22198. doi: 10.7759/cureus.22198. eCollection 2022 Feb.

Abstract

Osteogenesis imperfecta (OI) represents a group of rare connective tissue disorders characterized by excessive bone fragility. Type 3 is a rare form with new mutations; osteopenia and bone fragility are significant with numerous fractures, continuous and severe deformity of the spine, and long bones. Our case study concerns a 10-year-old male child admitted to the pediatric department of the State University of Haiti Hospital. OI type 3 was diagnosed based on both clinical and radiological assessments. Multidisciplinary care was initiated. Although the evolution was still unsatisfactory, characterized by intermittent episodes of dyspnea and left lung hypoplasia, he was stabilized after 28 days of hospitalization and referred to the orthopedics department for follow-up care.

摘要

成骨不全症(OI)是一组罕见的结缔组织疾病,其特征是骨脆性增加。3型是一种罕见的伴有新突变的类型;骨质减少和骨脆性显著,有大量骨折、脊柱和长骨持续严重畸形。我们的病例研究涉及一名10岁男童,他被收治于海地国立大学医院儿科。根据临床和放射学评估诊断为3型成骨不全症。启动了多学科护理。尽管病情进展仍不尽人意,表现为间歇性呼吸困难和左肺发育不全,但他在住院28天后病情稳定,并被转诊至骨科进行后续护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf55/8925934/5d90f9b6d3eb/cureus-0014-00000022198-i01.jpg

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