(Amelia, ectromelia)

Very rare. Extreme shortening or even absence of one or more limbs.

Clinical presentation:

-        amelia or ectromelia: complete absence of one or several limbs

-        phocomelia: underdevelopped limbs looking like seal fins

-        hemimelia: shortened half limbs

-        tetra-amelia: complete absence of all four limbs

Causes:

-        as part of a syndrome: TAR, Cornelia de Lange, Holt-Oram, Schinzel, mutation of WNT3 gene (17q21.31-q21.32)

-        toxic origin: thalidomide, mebendazole

Anesthetic implications:

difficult venous and arterial access. Echoguided puncture of subclavian and femoral vessels because there is a possibility of absence or abnormal anatomical position of these structures; difficult monitoring of BP:

some approaches have been used with success,

-        superficial temporal artery catheterization

-        small tensiometer cuff around the shaft of the penis

-        carotid doppler

-        cerebral or somatic oxygen content measure with NIRS

-        continuous non-invasive BP monitoring with systems combining a digital cuff and the NIR technology (as the Nexfin® system), but placed at the root of a limb

References : 

-        Tallmeister A, Sheehan MM, Pelton DA. 
Dental anaesthesia for a child with complete amelia. 
Can Anaesth Soc J 1986; 33: 484-7.

-        Gurnaney H, Ganesh A, Storm PB. 
Penile blood pressure monitoring in a pediatric patient with hypomelia. 
Anesth Analg 2010; 111; 1328

-        Mukhtar K, Jayaseelan S, Allsop E. 
Anaesthesia and orphan disease: phocomelia – a lesson from the past. 
Eur J Anaesthesiol 2012; 29: 353-4. 

-        Earle R, Vaghadia H, Shanahan E, Tang R, Sawka A.
Real-time measurement of blood pressure with Nexfin in a patient with thalidomide-related phocomelia.
J Clin Anesth 2016; 34: 244-6.

-        Vadi MG, Ghazal EA, Malkin MR, Ayodeji A, applegate RL.
Continuous noninvasive hemodynamic monitoring in an infant with tetra-amelia.
A&A Case Reports 2016; 123-4.

-        Horn MP, Khaja MS, Stucken EZ, Saad WE.
Collaborative establishment of difficult vascular access for general anesthetic management of an adult with tetra-amelia: a case report.
A&A Practice 2018; 12: 353-5. 

-        Loughnan A, Milan Z.
Peri-operative management of an adult with tetra-amelia undergoing major abdominal suregery.
Anaesthesia Reports 2020; 8: 200-3.

-        Sayeup P, Prasarnphan D, Charoenraj P.
Anesthetic management in an infant with tetra-amelia syndrome with congenital maxillomandibullar fusion: a case report.
Pediatr Anesth 2022; 32: 967-9

Updated: July 2022