Abstract
There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned epiphyses on hand radiographs.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Arthralgia / diagnostic imaging*
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Arthralgia / genetics
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Child
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Female
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Foot Bones / abnormalities*
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Foot Bones / diagnostic imaging*
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Hand Bones / abnormalities*
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Hand Bones / diagnostic imaging*
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Hearing Loss, Sensorineural / diagnosis*
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Humans
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Radiography
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Receptor, Fibroblast Growth Factor, Type 3 / genetics
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Syndrome
Substances
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FGFR3 protein, human
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Receptor, Fibroblast Growth Factor, Type 3