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Asymmetrical long bone bowing with a “beaten-metal” appearance of the skull, dolichomacrocephaly, and ocular hypertelorism.

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Bowing of Long Bones, Asymmetrical and Symmetrical.

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Very rare; only a few cases described.

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Two sibs with congenital asymmetrical long bone bowing and one with congenital symmetrical long bone bowing were described. Other abnormalities included beaten-metal appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and bone-within-bone appearance of vertebrae. Differential diagnosis must be made with camptomelic dysplasia, kyphomelic dysplasia, hypophosphatasia, Grant syndrome, and osteogenesis imperfecta.

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This illness is a special mild form of the other bone dysplasia genetic syndromes and has no special repercussion on anesthesia technique, with the potential exception of positioning and access for locoregional anesthesia.

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Grant Syndrome: Persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae, camptomelia, and hypotonia. Apparently, it is an autosomal dominant trait.

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Osteogenesis Imperfecta: Inherited disease responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities.

Moore LA, Moore CA, Smith JA, et al: Asymmetric and symmetric long bone bowing in two sibs: An apparently new bone dysplasia. Am J Med Genet 47:1072, 1993.  [PubMed: 8291526]

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