A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome.
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.
Didolkar
Manjiri M
MM
Department of Radiology, Duke University Medical Center, Durham, NC 27710, USA. manjiri.didolkar@duke.edu
Vinson
Emily N
EN
Gaca
Ana M
AM
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D018771:Arthralgia / Q000000981:diagnostic imaging* / Q000235:genetics; D002648:Child; D005260:Female; D005529:Foot Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D050276:Hand Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013577:Syndrome
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3