Alternative titles; symbolsCUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES WITHOUT ALOPECIA OR BRACHYDACTYLY▼ Clinical FeaturesKozlowski et al. (1995) reported 2 unr...
Alternative titles; symbols
▼ Clinical Features
Kozlowski et al. (1995) reported 2 unrelated patients with cone-shaped knee epiphyses and metaphyses. One was a 4-year-old girl born of healthy nonconsanguineous Dutch Caucasian parents. The second was a 5-year-old Lebanese boy born of nonconsanguineous parents. Both had short stature, limitation of joint movements, and radiographic knee abnormalities. Radiographic examination of the second patient also revealed minimal irregularity of the distal radial and ulnar metaphyses and slight coning of the right distal radial epiphysis. Hair, nails, and skin were normal, and bone age was not advanced. The hands of both patients were normal.
Dieux-Coeslier et al. (2004) described 3 unrelated patients affected by a characteristic metaphyseal chondrodysplasia with cup-shaped metaphyses of the knees. Lower femoral and upper tibial cone-shaped epiphyses were embedded in the metaphyses. Main clinical features were short stature, shortening of the lower limbs, limitation of knee extension, and normal hand lengths. Radiographs of skull, spine, and hands showed no abnormality. Dieux-Coeslier et al. (2004) compared their cases to those previously described in the literature with metaphyseal acroscyphodysplasia (250215) and trichoscyphodysplasia (609990). They suggested that the 2 cases reported by Kozlowski et al. (1995) showed the greatest similarity to their 3 cases and served to define a new form of metaphyseal dysplasia with specific lower limb involvement and cup-shaped metaphyses.