Genetic disorder with metaphyseal dysplasia that is
more pronounced in the lower than in the upper extremities.
Metaphyseal Acrodysplasia; Wedge-Shaped Epiphysis of
Knees; Metaphyseal Acroscyphodysplasia.
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.
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.
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
Kozlowski K, Meradji M, Beemer FA: Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.
Verloes A, Le Merrer M, Farriaux JP, et al: Metaphyseal acroscyphodysplasia.