Dysplasia: acromesomelic Maroteaux type
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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 :
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Updated: August 2019