(Tetra-amelia-multiple anomalies syndrome)

Very rare.  Association of a tetra-amelia with other anomalies: cleft lip palate, bilobate or hypoplastic lungs, renal or urogenital anomalies.

Different types:

-        type 1:  mutation of the WNT3 gene (17q21.31-q21.32) [MIM 273 395]

-        type 2:   mutation of the RSPO2 gene (8q23) [MIM 618 021] + ankyloglossia, microretrognathia, cardiac anomalies, sometimes pulmonary agnenesis

Anesthetic implications:

difficult ventilation and intubation; difficult venous and arterial access. Echoguided puncture of subclavian and femoral vessels and  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.

Updated: January 2019