ABSTRACT

Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by autonomic dysfunction, respiratory failure, swallowing difficulties and skeletal findings, including short stature, bowed long bones, camptodactyly, and joint contractures. Mutations in the leukemia inhibitory factor receptor gene on chromosome 5p13 were identified as causative for the syndrome. Herein, we report on an infant diagnosed with Stuve-Wiedemann syndrome which was confirmed by molecular analysis. A 6-month-old girl was referred for episodic hyperthermia, camptodactyly, and leg length discrepancy. Radiographic examination revealed cortical sclerosis and bowing of the lower extremities with osteopenia. Considering the diagnosis of Stuve-Wiedemann syndrome, leukemia inhibitory factor receptor gene sequence analysis was performed and a pathogenic homozygous mutation (c.2074C>T, p.Arg692Ter) was revealed in the patient, which was heterozygous in the parents. In conclusion, Stuve-Wiedemann syndrome, a genetic disorder of the skeleton characterized by bowed long bones and osteopenia, should be kept in mind in the differential diagnosis of patients presenting with episodic hyperthermia, respiratory distress and swallowing dysfunction.