Bruck syndrome; osteogenesis imperfecta with congenital joint contractures

Pathology

• the molecular defect is an aberrant cross-linking of bone collagen, due to underhydroxylation of Lys within the telopeptides of collagen type 1, whereas the Lys in the triple helix are normal

Genetics

• type 2
  • autosomal recessive
  • associated with defects in PLOD2

Clinical manifestations

• generalized osteopenia
• joint contractures at birth
• fragile bones & short stature

Differential diagnosis

• distinguished from osteogenesis imperfecta by the absence of hearing loss & dentinogenesis imperfecta, & by the presence of clubfoot & congenital joint limitations

More general terms

• genetic syndrome (multisystem disorder)
• osteogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/609220