K. Nakamura et al., FAMILIAL OCCURRENCE OF HYPERPLASTIC CALLUS IN OSTEOGENESIS IMPERFECTA, Archives of orthopaedic and trauma surgery, 116(8), 1997, pp. 500-503
There is a hypothesis that hyperplastic callus (HC) in osteogenesis im
perfecta (OI) is not merely a rare complication but could actually be
inherited, although this idea has not yet been investigated. We descri
bed two cases, a mother and son, with mild OI, normal scleral colour a
nd no dentinogenesis imperfecta, who repeatedly had HC in their femur.
Familial occurrence of HC was found in 13 cases in 5 families among 2
1 cases in 7 families with a familial background of OI in the literatu
re (including this report). This is higher than the reported incidence
of HC, 1.5% (5 cases of 333), and the mode of transmission is concomi
tant with autosomal dominant inheritance in all these families, Since
a review of 47 cases in the literature shows that HC occurs independen
tly of scleral colour and the degree of bone fragility, it may be an a
dditional criterion for subdivision within each type of the Sillence c
lassification.