Asymmetrical long bone bowing with a “beaten-metal”
appearance of the skull, dolichomacrocephaly, and ocular hypertelorism.
Bowing of Long Bones, Asymmetrical and Symmetrical.
Very rare; only a few cases described.
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.
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.
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