Prevalence: < 1.106. Autosomal recessive or X-linked transmission of a mutation of the SLC29A33 gene. Particular form of generalized osteosclerosis with sclerosis of:
- the base of the skull and progressive narrowing of the nervous and vascular foramina (loss of vision and hearing)
- the ribs, clavicles and scapulae,
- the mediodiaphyseal regions (loss of differentiation between the cortical and the medulla) and an severe osseous fragility; the invasion of the medullar cavities causes anemia and thrombocytopenia.
Patients have a prominent forehead, a narrow face, flattening of the vertebral bodies (platyspondyly) and dental anomalies. Short stature, epilepsy, skin signs, and progressive psychomotor deficit are frequently observed.
Anesthetic implications:
risk of fractures, short stature; check the hemoglobin and blood platelets levels
References :
- Kojmane W, Chaouki S, Abourazzak S, Hida M et al.
Dystostéosclérose et ostéite chronique de la mandibule.
Arch Pédiatr 2015 ; 22 : 1154-6
Updated: July 2019