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