巴勒斯坦婴儿系统性透明质病的早期诊断：1例报告

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-10-03 DOI:10.1002/ccr3.71126

Lilyan Jarrar, Sara Mutan, Lana Malhis, Ahmad Mashni, Afnan Ajlone, Mahdi Zaid, Sara Abuaisha

引用次数: 0

摘要

近亲家庭中有挛缩、皮肤变化和腹泻的婴儿应怀疑为婴儿全身性透明质病。早期识别允许及时的基因检测，支持性护理和咨询，改善预后不良的家庭结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report

查看原文本刊更多论文

Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report

Infantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite poor prognosis.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).