Stüve-Wiedemann syndrome in a neonate.
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.
['Sarafidis|Kosmas|K|', 'Piretzi|Kaliopi|K|', 'Agakidou|Eleni|E|', 'Kohlhase|Jürgen|J|', 'Zafeiriou|Dimitrios|D|']
D003241:Consanguinity D004576:Electromyography D005097:Exostoses, Multiple Hereditary D017809:Fatal Outcome D005260:Female D005865:Gestational Age D006801:Humans D007231:Infant, Newborn D053680:Leukemia Inhibitory Factor Receptor alpha Subunit D009154:Mutation D010009:Osteochondrodysplasias
hyperpyrexia bone dysplasia bowed femur hyperthermia myotonia respiratory distress