[MIM 186 550]           

(brachydactyly-dysplasia of the elbows and the wrists syndrome)

Incidence: 1.106. Autosomal dominant transmission of an anomaly of the expression of the PIXT1 gene (5q31.1) at the level of the upper limbs. This results in dysplasia of the bony elements of the elbow, forearm and carpal bones, with brachydactyly. Due to a homeotypic transformation, the upper limbs take the morphology of the lower limbs: the distal part of the humerus resembles that of the femur and the proximal part of the radius and the ulna are similar to the tibia and fibula, respectively. The carpal bones have the radiological appearance of a clubfoot. In addition, the humeral artery has a path similar to that of the popliteal artery.

Clinical picture: flexural deformation of the elbows that seem to be displaced anteriorly, radial deviation of the wrists, short fingers, short and ingrown nails .

Anesthetic implications: 

difficult venous access in the upper limbs, difficult positioning.

References : 

-        Abdel-Ghani H, Mansour A, Mahmoud M, Ez-Elarab M.
Liebenberg syndrome: case report and insight into molecular basis.
J Hand Surg 2013; 38A:459-65

Updated: April 2019