[MIM 259 450, 609 220]

Prevalence: < 1/106. Autosomal recessive transmission. Association of osteogenesis imperfecta and arthrogryposis (see these terms).

Different types:

-        type 1: FKBP10 gene mutation (17q21.2)

-        type 2: PLOD2 gene mutation (3q24)

Those genes code for bone specific telomeric lysyl-hydroxylase.

Clinical presentation:

-        bone fragility and osteoporosis

-        progressive contracture of joints

-        short stature

-        scoliosis

-        sometimes: pterygium

Anesthetic implications: 

Risk of fractures. Locoregional anesthesia cases have been reported in osteogenesis imperfecta: caudal, spinal, lumbar epidural (with or without prior echoguiding), peripheral nerve blocks.  Neuraxial blocks can be difficult to perform due to the deformities (scoliosis). 

No risk of malignant hyperthermia: intraoperative hyperthermia and metabolic acidosis, formerly attributed to an increase in the metabolism in case of osteogenesis  imperfecta have not be confirmed in the recent series of patients.

 

References : 

Updated: March 2018