S tüve– W iedemann 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.