TY - JOUR
T1 - Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report
AU - Gaspar, Isabel Mendes
AU - Saldanha, Tiago
AU - Cabral, Pedro
AU - Vilhena, M. Manuel
AU - Tuna, Madalena
AU - Costa, Cristina
AU - Dagoneau, Nathalie
AU - Daire, Valerie Cormier
AU - Hennekam, Raoul C. M.
PY - 2008
Y1 - 2008
N2 - 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
AB - 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
U2 - https://doi.org/10.1002/ajmg.a.32325
DO - https://doi.org/10.1002/ajmg.a.32325
M3 - Article
C2 - 18546280
SN - 1552-4825
VL - 146A
SP - 1748
EP - 1753
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 13
ER -