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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays
A David1, M Vincent2, M-P Quéré3
1Department of Radiology and Medical Imaging, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France.
Abstract:
Brachydactyly, or shortening of the digits, is due to the abnormal development of phalanges, metacarpals and/or metatarsals. This congenital malformation is common, easily detectable clinically but often requires additional radiological exploration. Radiographs are essential to characterize the type of brachydactyly and to show the location of the bone shortening, as well as any associated malformation. This article reviews the radiological findings for isolated brachydactylies (according to the types classified by Bell, and Temtamy and McKusick) and for brachydactylies that are part of complex multisystem malformation syndromes. If warranted by the clinical and radiological examinations, a genetic analysis (molecular and/or cytogenetic) can confirm the etiologic diagnosis.
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