Hemimelic Skeletal Dysplasia

Abstract

The left arm and leg are longer than the right and there is a flexion deformity of the left hip and knee. The pigmented area can be seen above the left hip.

The variable manifestations of dysplasia epiphysealis hemimelica

“…7). Metaphyseal streaking similar to that seen in Ollier's disease has also been described [3,12,18] as well as bone bowing [2,12,18,20] (Fig.3b). Severe extrinsic metaphyseal erosion may be due to a nearby epiphyseal osteochondroma (Fig.…”

“…Modeling abnormality is more frequent in the generalized form of DEH. Widened metaphyses were seen in four of our patients and twelve cases in the literature [2,5,7,10,12,15,18,21]. In three of the nine cases described by Carlson and Wilkinson, there was associated focal arrest of the growth plate similar to that seen after severe trauma or infection [4].…”

“…One of the patients had diffuse involvement of a lower extremity and ipsilateral 6th rib [14]. Saxton and Wilkinson reported a case with widespread involvement of the left lower and ipsilateral upper limb [18]. We reported recently a similar case [1].…”

“…5). We found six cases reported in the literature and we have three of our patients that exhibited this peculiar anomaly [5,7,10,12,18,21].…”

“…The affected limb may be longer than the unaffected one as a result of the enlargement of several ossification centers and in part secondary to increased diaphyseal length [5,7,9,12,18,21] (Fig. 5).…”