Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays - 07/05/15
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.
Il testo completo di questo articolo è disponibile in PDF.Keywords : Brachydactyly, Hand abnormalities, Foot abnormalities, Hand radiography, Congenital bone malformations
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Vol 96 - N° 5
P. 443-448 - Maggio 2015 Ritorno al numeroBenvenuto su EM|consulte, il riferimento dei professionisti della salute.