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

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-07, Vol.146A (13), p.1748-1753
Main Authors: Gaspar, Isabel Mendes, Saldanha, Tiago, Cabral, Pedro, Vilhena, M. Manuel, Tuna, Madalena, Costa, Cristina, Dagoneau, Nathalie, Daire, Valerie Cormier, Hennekam, Raoul C.M.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Bone Diseases, Developmental - complications
Bone Diseases, Developmental - congenital
Bone Diseases, Developmental - diagnostic imaging
Bone Diseases, Developmental - genetics
Child
Child, Preschool
Diseases of the osteoarticular system
Dysautonomia, Familial - complications
Dysautonomia, Familial - genetics
Female
Follow-Up Studies
Genes, Recessive
Humans
Infant
Infant, Newborn
Leukemia Inhibitory Factor Receptor alpha Subunit - genetics
LIFR gene
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical genetics
Medical sciences
natural history
Radiography
Schwartz–Jampel syndrome
Sequence Deletion
Stuve–Wiedemann syndrome
Syndrome
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32325