Dysplasia: acromesomelic Grebe type

[MIM 200 700]

(Grebe syndrome)

Extremely rare. Osteochrondrodysplasia. Autosomal recessive transmission of a mutation in the CDMP-1 (cartilage-derived morphogenetic protein-1) gene called GDF5 on 20q11.2.

Association of :

-         severe dwarfism without facial dysmorphism nor vertebral anomalies

-         hypomelia: important shortening of the  proximal and medial segments of the limbs (short and deformed long bones), fusion of the bones of the carpus and the tarsus

-  absence of proximal and medial phalanges; the distal phalanges present with nails

-         postaxial polydactyly

-         normal intelligence


Anesthetic implications: 

short stature; correct size of the endotracheal tube ? increased risk of bronchial intubation; difficult peripheral venous access 


Références :          


Updated: August 2019