Abstract
Stüve-Wiedemann syndrome (SWS) is typically lethal in the neonatal period; only two patients have been reported with a longer survival. We report a new patient with SWS, who at 9 years of age is one of the longest survivors with this disorder. In addition to the characteristic features of SWS, she has a number of unique clinical signs, including lack of corneal and patellar reflexes, a smooth tongue with no fungiform papillae, chronic gingival abscesses, mottled, poor dentition, blotchy pigmentation of the skin, unusual infections, multiple fractures, and progressive scoliosis. Cytogenetic analysis identified mosaicism for a supernumerary marker chromosome (SMC), seen in the majority of amniocytes, blood, and skin fibroblasts. The SMC was shown to be derived from chromosome 5 and contains euchromatin. The significance of the SMC to the etiology of SWS is unknown. This patient further demonstrates that SWS is not universally lethal.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
