Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.10/398
Título: Long-term follow-up in Stuve–Wiedemann syndrome: a clinical report
Autor: Gaspar, I
Saldanha, T
Cabral, P
Vilhena, M
Tuna, M
Costa, C
Dagoneau, N
Daire, V
Hennekam, R
Palavras-chave: Anomalias congénitas múltiplas
Criança
Doenças do desenvolvimento ósseo
Síndrome de Stuve–Wiedemann
Stuve–Wiedemann syndrome
Schwartz–Jampel syndrome
Data: 2008
Editora: Wiley
Citação: Am J Med Genet A. 2008 Jul 1;146A(13):1748-53.
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.10/398
ISSN: 1552-4825
Aparece nas colecções:NEU - Artigos

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