Bruck Syndrome

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

Epidemiology

Prevalence is unknown but less than 40 cases have been reported in the literature so far.

Clinical description

Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal.

Etiology

The syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other affected individuals.

Genetic counseling

Transmission is autosomal recessive.