Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report.

新生儿模仿先天性石骨症伴阴性综合遗传检查的暂时性全身性骨硬化 ： 一例病例报告。

• 发表时间: 2024 Mar
• 来源期刊: J Pediatr Clin Pract
• DOI: 10.1016/j.jpedcp.2024.200100
• PMID: 38827482
• 文章类型: Journal Article
• 作者列表: Hauck J,Gerard A,Crowe JE,Martinez CA,Machol K

关键词: Osteopetrosis; Transient osteosclerosis; autosomal recessive osteopetrosis; bone mineral density disorder; heritable bone diseases; infantile osteopetrosis; radiological findings; whole genome sequencing

Abstract

We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.

摘要

我们介绍了一名新生儿，患有短暂性全身性骨硬化和阴性遗传检查。这种情况的病因尚不清楚。考虑到重叠的放射学征象与严重的骨硬化形式，熟悉这种情况对于正确的诊断和管理至关重要。