Microspherakia-metaphyseal dysplasia

[MIM 157 151]

(Verloes-Van Maldergem-de Marneffe syndrome)

Two reported cases.

Syndrome associating

-        bone dysplasia: thickening of the diaphyses of the long bones, deformation of the metaphyses and irregularities of the epiphyses

-        micromelic dwarfism

-        eye abnormalities: myopia, microspherophakia (reduction of the vertical diameter of the lens together with its relative spherization), coloboma, dislocation of the lens, retinal detachment.


Anesthetic implications:

short stature, fragile eyes


References :


Updated: January 2017