Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
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.
Chen
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Division of Medical Genetics, Children's Hospital Oakland, Oakland, California 94609, USA. echen@mail.cho.org
Cotter
P D
PD
Cohen
R A
RA
Lachman
R S
RS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000473:pathology*; D012131:Respiratory Insufficiency; D017741:Survivors