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Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report
Author(s) -
Gaspar Isabel Mendes,
Saldanha Tiago,
Cabral Pedro,
Vilhena M. Manuel,
Tuna Madalena,
Costa Cristina,
Dagoneau Nathalie,
Daire Valerie Cormier,
Hennekam Raoul C.M.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32325
Subject(s) - medicine , short stature , dysautonomia , pediatrics , natural history , girl , surgery , disease , biology , genetics
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.