Dysplasia Epiphysialis Hemimelica

Wheble, V. H.; Connell, M. C.

doi:10.1259/0007-1285-31-371-637

Cited by 7 publications

(2 citation statements)

References 3 publications

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“…Although there is no definite evidence of familial or hereditary transmission, Hensinger et al described seven cases in 12 generations of one family [9,15]. The etiology remains unknown, although viral involvement has been suggested [29,35]. Malignant transformation has not been reported [21].…”

Section: Discussionmentioning

confidence: 99%

Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature

et al. 2009

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Dysplasia epiphysealis hemimelica (DEH) or Trevor's Disease is a very rare disease with an estimated incidence of one in 1.000.000. The majority of cases reported affect the lower limb and only 25 case reports of 33 cases with affection of the upper limb have been published. Here we present a case of DEH affecting the distal ulnar epiphysis and the lunate in an eleven-year-old girl, a DEH location described extremely rarely before. We firstly do not only present clinical and radiological findings (plane radiographs, CT, MRI), but also the surgical approach and the histopathological results of DEH in this uncommon location. Although extremely rare, DEH should be considered also in non-typical locations.

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Section: Discussionmentioning

confidence: 99%

Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature

et al. 2009

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“…One of identical twins suffered from this disease but the other one was healthy in Donaldson's case (Donaldson et al 1953). Developmental abnormality is considered responsible for the disorder (Mouchet & Belot 1926), whereas according to Wheble & Connell (1958) the cause is probably viral infection (rubella, measles). In Fairbank's opinion (1958) the causative agent has an effect on the apical ectoderm of the limb bud for a very short time in the fifth week of foetal development.…”

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confidence: 99%