Abstract
Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper cells, these patients are prone to infections with uncommon pathogens as illustrated by this case.
MeSH terms
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Abnormalities, Multiple / genetics
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Adult
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Exostoses, Multiple Hereditary / physiopathology*
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Family
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Female
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Humans
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Infant, Newborn
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Janus Kinase 3 / physiology
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Janus Kinases / physiology
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Leukemia Inhibitory Factor Receptor alpha Subunit / genetics*
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Leukemia Inhibitory Factor Receptor alpha Subunit / physiology
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Male
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Mutation
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Osteochondrodysplasias / physiopathology*
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Pedigree
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STAT3 Transcription Factor / physiology
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Siblings
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Syndrome
Substances
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LIFR protein, human
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Leukemia Inhibitory Factor Receptor alpha Subunit
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STAT3 Transcription Factor
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STAT3 protein, human
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JAK3 protein, human
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Janus Kinase 3
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Janus Kinases