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Genetic disorder with metaphyseal dysplasia that is more pronounced in the lower than in the upper extremities.

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Metaphyseal Acrodysplasia; Wedge-Shaped Epiphysis of Knees; Metaphyseal Acroscyphodysplasia.

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Only two Italian and two Australian siblings and two unrelated cases, one from Italy and one from Morocco, have been described. Autosomal recessive inheritance was suggested.

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Cup-shaped dysplasia of the metaphyses mainly of the knees with premature epiphyseal-metaphyseal fusion and gross deformation of the femoral condyles were described as characteristic features. The radiologic aspect of the knees is specific, with the lower femoral and upper tibial epiphyses embedding themselves in their metaphyses, which results in the typical cup shape. Premature central epiphyseal-metaphyseal fusion and gross deformation of the femoral condyles (or even coalescence) may occur. Progressive coxa valga, bowed tibiae, and short stature are associated features. The upper extremities are less affected, but significant shortening of hand and finger bones can be found. Three of the four children described showed psychomotor retardation. In addition to the symptoms described, one child had mild scoliosis.

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Positioning may be difficult and careful padding is required. No other defects were described, so no specific anesthetic implications are expected. Adequate anxiolysis may be helpful in the management of mentally impaired patients.

Bellini F, Chiumello G, Rimoldi R, et al: Wedge-shaped epiphyses of the knees in two siblings: A new recessive rare dysplasia? Helv Paediatr Acta 39:365, 1984.  [PubMed: 6543849]
Kozlowski K, Meradji M, Beemer FA: Dutch variant of Bellini metaphyseal dysplasia: report of two siblings. Australias Radiol 39:282, 1995.  [PubMed: 7487766]
Verloes A, Le Merrer M, Farriaux JP, et al: Metaphyseal acroscyphodysplasia. Clin Genet 39:362, 1991.  [PubMed: 1860252]

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