These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
    Author: Chen E, Cotter PD, Cohen RA, Lachman RS.
    Journal: Am J Med Genet; 2001 Jul 01; 101(3):240-5. PubMed ID: 11424139.
    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.
    [Abstract] [Full Text] [Related] [New Search]