A case of dyschondrosteosis from Roman Britain
2000; BMJ; Volume: 37; Issue: 10 Linguagem: Inglês
10.1136/jmg.37.10.e27
ISSN1468-6244
Autores Tópico(s)Sexual Differentiation and Disorders
ResumoEditor—Dyschondrosteosis (Leri-Weill syndrome) is an autosomal dominant condition in which mesomelic short stature is associated with Madelung deformity of the radius.1-3 The expression of the condition is variable but consistently more severe in females and generally first appears in late childhood.4Patients with dyschondrosteosis (DCS) have been found to have deletions and mutations of the short stature homeobox containing gene ( SHOX ).3 5-9 Homozygous mutations at the DCS locus results in the more severe Langer type of mesomelic dwarfism.10 I report here a case of DCS discovered in a skeleton from the Romano-British period, which may be the earliest case known at present. The skeleton was one of a small number of isolated burials excavated in 1998 from Crowland Road, Gloucester. The burials were in shallow graves, typically 0.4 m below the modern ground level and associated with structures dating to the 2nd or 3rd centuries AD. None of the burials was orientated west-east and therefore may be of pagan rather than Christian origin. Unfortunately the skeleton was damaged by earth moving equipment when the site was stripped and some further damage was sustained during excavation. Nevertheless, a photograph taken when the skeleton was still in situ clearly shows a Madelung deformity of the right forearm (fig 1). Figure 1 Photograph of skeleton of case of dyschondrosteosis in the ground showing a Madelung deformity of the right radius. Note that the body appears to have been put into the grave without care. Damage to the left leg was caused by earth moving equipment and further damage was caused during excavation. Marker is 1 m and arrowhead points north. During recovery, some of the bones were damaged so that the amount of the skeleton which was available …
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