Özet:

Stuve-Wiedemann syndrome is an autosomal resessive transitional disorder characterized by shortness of length, curvature in long bones, camptodactile and joint contractors, as well as bone system findings, autonomous dysfunction, respiratory failure and digestion dysfunction. The etiology is responsible for mutations in the leukemia inhibitory factor receptor gene located in the chromosome area 5p13. This article presented a milk child diagnosed with Stuve-Wiedemann syndrome and confirmed by molecular analysis. The six-month-old girl was diagnosed with episodic hypertermia, camptodactile and the length difference between the legs. Radiographic examinations found increased sclerosis and curvature deformity in the lower limbs with common osteopenia. In the analysis of the leukemia inhibitory factor receptor gene series with pre-diagnosis of Stuve-Wiedemann syndrome, the patient's mutation c.2074C>T (p.Arg692Ter) previously related to this disease in the literature was identified as homozigot, heterozigot in the mother and father. As a result, the Stuve-Wiedemann syndrome, a genetic disease of the skeleton characterized by curvature and osteopenia in the long bones, should necessarily be taken into account in the distinctive diagnosis of patients with episodic hypertermia, respiratory failure and digestive dysfunction.