Dysplasia: acromesomelic Maroteaux type

[MIM 602 875]

Extremely rare. Osteochrondrodysplasia. Autosomal recessive transmission of a mutation of the  AMDM gene on 9p13-q12 or NPR-B gene (B-natriuretic receptor).

Association of:

-         severe dwarfism without dysmorphism 

-         hypomelia: significant shortening of the  proximal and medial segments of the limbs;  short and stocky fingers

-         vertebral anomalies:  cuneiform vertebrae (dorsal portion shorter than the ventral one)

-         normal intelligence


Anesthetic implications: 

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


References : 

-         


Updated: August 2019