Dysplasia: acromesomelic Grebe type
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(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