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S tüve– W iedemann syndrome in a neonate
Author(s) -
Sarafidis Kosmas,
Piretzi Kaliopi,
Agakidou Eleni,
Kohlhase Jürgen,
Zafeiriou Dimitrios
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12431
Subject(s) - medicine , pediatrics , contracture , joint contracture , surgery
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.