title: Stüve-Wiedemann syndrome in a neonate.
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.
authors: 1st Department of Neonatology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Kosmas
authors: K
authors: Sarafidis
authors: Kaliopi
authors: K
authors: Piretzi
authors: Eleni
authors: E
authors: Agakidou
authors: Jürgen
authors: J
authors: Kohlhase
authors: Dimitrios
authors: D
authors: Zafeiriou
mesh_terms: D003241:Consanguinity; D004576:Electromyography; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics*
chemical_list: C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit
keywords: bone dysplasia; bowed femur; hyperpyrexia; hyperthermia; myotonia; respiratory distress