title: Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays.
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.
authors.affiliation: Department of Radiology and Medical Imaging, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France. Electronic address: art.dav44@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: David
authors.affiliation: Department of Clinical Genetics, hôpital mère-enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France. Electronic address: marie.vincent@chu-nantes.fr.
authors.forename: M
authors.initials: M
authors.lastname: Vincent
authors.affiliation: Department of Pediatric Radiology, hôpital mère-enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France. Electronic address: mariepierre.quere@chu-nantes.fr.
authors.forename: M-P
authors.initials: MP
authors.lastname: Quéré
authors.affiliation: Department of Pediatric Radiology, hôpital mère-enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France. Electronic address: thomas.lefrancois@chu-nantes.fr.
authors.forename: T
authors.initials: T
authors.lastname: Lefrançois
authors.affiliation: Department of Radiology and Medical Imaging, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France. Electronic address: eric.frampas@chu-nantes.fr.
authors.forename: E
authors.initials: E
authors.lastname: Frampas
authors.affiliation: Department of Pediatric Radiology, hôpital mère-enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France. Electronic address: albert.david@chu-nantes.fr.
authors.forename: A
authors.initials: A
authors.lastname: David
mesh_terms: D059327:Brachydactyly / Q000145:classification / Q000000981:diagnostic imaging*; D006801:Humans; D011859:Radiography; D013577:Syndrome
keywords: Brachydactyly; Congenital bone malformations; Foot abnormalities; Hand abnormalities; Hand radiography