(pseudothalidomide, SC-phocomelia syndrome)

Very rare. Autosomal recessive mutation of the WNT3 gene (on 17q21).

Diagnosis by examination of the chromosomes in metaphase: premature separation of centromeric heterochromatin.

Association of:

-        intrauterine growth restriction:

-        limbs malformation (more severe in upper limbs): tetraphocomelia or symmetrical amelia; malformations of the hands or feet.

-        craniofacial abnormalities: cleft lip with or without cleft palate, micrognathia, microbrachycephaly, hypertelorism, downwards slanting of palpebral fissures, shallow orbits with prominent eyes.

Frequent mental retardation. Sometimes: pulmonary hypoplasia, cardiac abnormalities, renal polycystic disease, urogenital malformations, Moyamoya disease.

Often lethal in the neonatal period or early infancy.

Anesthetic implications:

hypoxemia, diffi cult venous access, difficult intubation; also difficult monitoring (saturation, BP). A case of reliable measurement using a neonatal cuff placed around the penis has been reported.

References : 

• Ragavan M, Reddy S, Kumar S. 
  Tetra-amelia with lung hypoplasia and facial defects, Robers-SC syndrome : report of two cases. 
  Pediatr Surg Int 2010; 26: 1049-52.

• 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.

Updated: October 2018