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Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report

2008; Wiley; Volume: 146A; Issue: 13 Linguagem: Inglês

10.1002/ajmg.a.32325

1552-4833

Isabel Gaspar, Tiago Saldanha, Pedro Cabral, M. Manuel Vilhena, Madalena Tuna, Cristina Costa, Nathalie Dagoneau, Valérie Cormier‐Daire, Raoul C. M. Hennekam,

Cancer-related gene regulation

Abstract Stuve–Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR . We compare the findings in this patient to other patients with prolonged survival from the literature. © 2008 Wiley‐Liss, Inc.