[MIM 276 820]

(Aplasia/hypoplasia of the limbs and the pelvis, Al Awadi-Raas-Rothschild syndrome)

Rare. Probable autosomal recessive transmission (inbreeding) of a mutation of the WNT7A gene on 3p25.

Association of:

-        phocomelia sometimes associated to a poly- or oligodactyly

-        malformation of the pelvic bones: bone hypoplasia, agenesis or hypoplasia of the sacrum

-        cranial abnormalities: abnormalities of the occiput (sometimes meningocele)

-        large and dysplastic ears, high and narrow palate, short neck, epicanthus

-        sometimes: thoracic dystrophy, genital malformations

-        normal intelligence in general

Anesthetic implications:

difficult arterial and venous access. Echoguided puncture of subclavian and femoral vessels because there is a possibility of abnormal anatomical position; difficult monitoring of BP: the Nexfin has been successfully used in a reported case.

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. 

Updated: October 2018