Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays

Diagnostic and Interventional Imaging
A DavidA David

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.

References

Oct 1, 2003·American Journal of Medical Genetics. Part a·Jacopo CelliHan G Brunner
Oct 3, 2003·Proceedings of the National Academy of Sciences of the United States of America·Katarina LehmannStefan Mundlos
Feb 12, 2005·American Journal of Human Genetics·Jeroen H RoelfsemaDorien J M Peters
Feb 27, 2007·Annales d'endocrinologie·S Cabrol
Jun 17, 2008·Orphanet Journal of Rare Diseases·Samia A Temtamy, Mona S Aglan
Oct 1, 2009·Clinical Genetics·S Mundlos
Jul 29, 2010·European Journal of Human Genetics : EJHG·Martine van BelzenRaoul C M Hennekam

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Citations

Jun 22, 2017·Veterinary and Comparative Orthopaedics and Traumatology : V.C.O.T·Megan T CrayKim Tong
Jan 25, 2021·Molecular Genetics & Genomic Medicine·Marcin BednarekAnna Wójcicka

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