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Stüve-Wiedemann syndrome in a neonate.

ΤίτλοςStüve-Wiedemann syndrome in a neonate.
Publication TypeJournal Article
Year of Publication2015
AuthorsSarafidis, K., Piretzi K., Agakidou E., Kohlhase J., & Zafeiriou D.
JournalPediatr Int
Volume57
Issue2
Pagination302-4
Date Published2015 Apr
ISSN1442-200X
Abstract

We describe a female neonate with Stüve-Wiedemann syndrome. The facial dysmorphism, joint contracture, distinctive skeletal changes, and myotonic discharges on electromyogram raised a suspicion of the rare autosomal recessive syndrome, which was later confirmed on molecular analysis of leukemia inhibitory factor receptor. She developed recurrent attacks of hyperpyrexia and died at age 3 months.

DOI10.1111/ped.12431
Alternate JournalPediatr Int
PubMed ID25868946

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