Bilateral Madelung’s deformity without signs of dyschondrosteosis  within five generations in a European family –  case report and review of the literature

Plafki, Christian; Luetke, Anja; Willburger, R. E.; Wittenberg, R. H.; Steffen, R.

doi:10.1007/pl00021230

Cited by 11 publications

(11 citation statements)

References 11 publications

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“…Usually, tibia and fibula are shortened even though less than the forearm bones, resulting in mesomelic dwarfism. However, it has to be noted that cases of Madelung's deformity, more frequently seen in females, are reported without signs of DCS, thus suggesting the possibility of another inherited condition (Golding & Blackburne, 1976;Plafki et al, 2000).…”

Section: Diagnosismentioning

confidence: 93%

A case of Madelung's deformity in a skeleton from Nuragic Sardinia

Canci¹,

Marini²,

Mulliri³

et al. 2002

Intl J of Osteoarchaeology

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The case reported here refers to the skeletal remains of a mature adult male found in a collective grave known as 'Giant's tomb' located near Donori (Sardinia) and dating to the end of the Bronze Age. The skeleton showed bilateral shortening of the forearm associated to radial bowing, marked deformations at the radio-ulnar distal joints and subsequent posterior dislocation of both ulnae. The whole alterations fit well with a diagnosis of Madelung's deformity, a rare form of mesomelic dysplasia. At present, this case is the most ancient evidence of Madelung's deformity.

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Section: Diagnosismentioning

confidence: 93%

A case of Madelung's deformity in a skeleton from Nuragic Sardinia

Canci¹,

Marini²,

Mulliri³

et al. 2002

Intl J of Osteoarchaeology

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“…1) [20,21]; all three features must be present for the diagnosis to be made. Several familial cases of isolated Madelung deformity have also been described [6,13]. All cases of congenital Madelung deformity are characterized by the presence of a Vickers ligament.…”

Section: Associationsmentioning

confidence: 98%

“…Congenital Madelung deformities are characterized by the presence of an anomalous volar radiolunate (Vickers) ligament. While some reserve the term true Madelung deformity to denote those cases arising in patients with Leri-Weill dyschondrosteosis where it is classically bilateral and symmetrical, this category is generally also extended to include isolated idiopathic cases in which a Vickers ligament is present [2,3,[10][11][12][13]. While the exact incidence is unknown, Madelung deformity demonstrates a 4:1 female predominance and increased prevalence among patients with Leri-Weill dyschondrosteosis.…”

Section: Introductionmentioning

confidence: 99%

Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics

et al. 2015

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Madelung deformity of the distal radius results from premature closure of the medial volar aspect of the distal radial physis, leading to increased volar tilt and increased inclination of the radial articular surface, triangulation of the carpus with proximal migration of the lunate and dorsal displacement of the distal ulna. The deformity is particularly common in Leri-Weill dyschondrosteosis, but it may also occur in isolation. True Madelung deformity can be differentiated from Madelung-type deformities by the presence of an anomalous radiolunate ligament (Vickers ligament). In this article, we will review the imaging characteristics of true Madelung deformity, including the common "distal radius" variant, the less common "entire radius" variant and "reverse" Madelung deformity. We will discuss the role of the Vickers ligament in disease pathogenesis and its use in differentiating true Madelung deformity from Madelung-type deformities arising from trauma or multiple hereditary exostoses. Surgical management of these patients will also be addressed.

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“…SHOX haploinsufficiency caused by deletions has been frequently shown in DCO individuals, whereas point mutations are more rarely observed (Belin et al 1998;Schiller et al 2000;Shears et al 1998). IMD has been described as both a sporadic and an inherited condition (Golding and Blackburne 1976;Plafki et al 2000) but the molecular defect has not yet been clarified. The considerable intra-and interfamilial variability of the phenotype in individuals with DCO has previously been reported (Dawe et al 1982;Lichtenstein et al 1980;Schiller et al 2000), raising the question as to whether IMD might be a subgroup of DCO.…”

Section: Introductionmentioning

confidence: 99%

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

et al. 2001

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Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the clinical characteristics of DCO has also been described in sporadic and a few familial cases but the genetic defect underlying IMD is unknown. In this study, we have examined 28 probands with DCO and seven probands with IMD for mutations in the SHOX gene by using polymorphic CA-repeat analysis, fluorescence in situ hybridisation (FISH), Southern blotting, direct sequencing and fibre-FISH analyses. This was combined with auxological examination of the probands and their family members. Evaluation of the auxological data showed a wide intra- and interfamilial phenotype variability in DCO. Out of 28 DCO probands, 22 (79%) were shown to have mutations in the SHOX gene. Sixteen unrelated DCO families had SHOX gene deletions. Four novel DCO-associated mutations were found in different families. In two additional DCO families, the previously described nonsense mutation (Arg195Stop) was detected. We conclude that mutations in the SHOX gene are the major factor in the pathogenesis of DCO. In a female proband with severe IMD and her unaffected sister, we detected an intrachromosomal duplication of the SHOX gene.

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Bilateral Madelung’s deformity without signs of dyschondrosteosis within five generations in a European family – case report and review of the literature

Cited by 11 publications

References 11 publications

A case of Madelung's deformity in a skeleton from Nuragic Sardinia

A case of Madelung's deformity in a skeleton from Nuragic Sardinia

Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

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