It is a medical condition characterized by asymmetrical long bone bowing with a “beaten-metal” appearance of the skull, dolichomacrocephaly, and ocular hypertelorism.
Bowing of Long Bones, Asymmetrical and Symmetrical.
This is a very rare disorder and the exact incidence is unknown. There are only few cases described in the literature.
Most cases are sporadic. An autosomal dominant inheritance has been suggested.
Diagnosis and Clinical aspects
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.
Other conditions to be considered
☞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.
et al: Asymmetric and symmetric long bone bowing in two sibs: An apparently new bone dysplasia. Am J Med Genet