Characterization of a long-term survivor with Stuve-Wiedemann syndrome andmosaicism of a supernumerary marker chromosome

Stuve-Wiedemann syndrome (SWS) is typically lethal in the neonatal period; only two patients have been reported with a longer survival. We report a ne w patient with SWS, who at 9 years of age is one of the longest survivors w ith this disorder. In addition to the characteristic features of SWS, she h as a number of unique clinical signs, including lack of corneal and patella r reflexes, a smooth tongue with no fungiform papillae, chronic gingival ab scesses, mottled, poor dentition, blotchy pigmentation of the skin, unusual infections, multiple fractures, and progressive scoliosis, Cytogenetic ana lysis identified mosaicism for a supernumerary marker chromosome (SMC), see n in the majority of amniocytes, blood, and skin fibroblasts. The SMC was s hown to be derived from chromosome 5 and contains euchromatin. The signific ance of the SMC to the etiology of SWS is unknown. This patient further dem onstrates that SWS is not universally lethal, (C) 2001 Wiley-Liss,Inc.