Radiological manifestations of the skeleton, lungs and brain in Stueve-Wiedemann syndrome

A total of 25 patients with the rare skeletal dysplasia Stueve-Wiedemann syndrome (SWS) have been evaluated during the last 11 years. Of all patients with clinical suspicion of SWS, skeletal and chest radiographs were obtained for classification of the underlying skeletal dysplasia. In one case, CT was carried out for the first time for further investigation of the midface hypoplasia. Typical conventional radiological findings and CT features were analysed and compared with published data. Early diagnosis of SWS was made by correlating radiological and clinical findings. Follow-up radiological examinations of the skeleton and of the chest were carried out in six children surviving infancy for evaluation of progression. Clinically, they suffered from progressive orthopaedic problems, recurrent aspiration pneumonia and recurrent episodes of hyperthermia, as well as cutaneous infections. Radiologically progressive bowing of the long tubular bones and progressive metaphyseal decalcification were present on follow-up skeletal radiographs. Skeletal abnormalities in SWS are so characteristic that an early post-partum diagnosis can be made by correlation of typical clinical and radiological findings. Few cases survive infancy. First, these patients face progressive orthopaedic problems and respiratory infections.