新生儿短暂性全身性骨硬化症酷似先天性骨硬化症且综合基因检查结果为阴性：一例报告

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

作者信息

Hauck Jeffrey, Gerard Amanda, Crowe James E, Martinez Caridad A, Machol Keren

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Department of Genetics, Texas Children's Hospital, Houston, TX.

出版信息

J Pediatr Clin Pract. 2024 Mar 14;11:200100. doi: 10.1016/j.jpedcp.2024.200100. eCollection 2024 Mar.

DOI:10.1016/j.jpedcp.2024.200100

PMID:38827482

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11138251/

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

我们报告了一名患有短暂性全身骨质硬化且基因检查结果为阴性的新生儿。这种病症的病因尚不清楚。鉴于其放射学征象与严重形式的骨硬化症有重叠，熟悉这种病症对于正确诊断和管理至关重要。