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

ABSTRACT 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.

Sparad:
Huvudupphov: Lilyan Jarrar, Sara Mutan, Lana Malhis, Ahmad Mashni, Afnan Ajlone, Mahdi Zaid, Sara Abuaisha
Materialtyp: Artigo
Språk:Inglês
Utgiven: Wiley 2025-10-01
Serie:Clinical Case Reports
Ämnen:
Arabs
consanguinity
genetic testing
hyaline fibromatosis syndrome
Länkar:https://doi.org/10.1002/ccr3.71126
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