[MIM 248 700]

See also arthrogryposes

Extremely rare: about 50 cases have been described. Autosomal recessive transmission or sporadic cases of a mutation of the PIZO2 gene (18p11-p11.21). Currently regarded as a form of type 3 (Gordon syndrome) or type 5 arthrogryposis.

Association of:

-        frozen facial expression  with blepharophimosis, asymmetric face

-        multiple joint contractures (arthrogryposis), limited mobility of the shoulders, the elbows and the wrists, arachnodactyly and camptodactyly

-        arachnodactyly

-        micrognathia, cleft or high-arched palate, low-set ears

-        growth and developmental retardation

-        cyphoscoliosis, pectus excavatum or carinatum

Are also common: congenital clubfeet, absence of deep tendinous reflexes and muscular hypoplasia of the limbs; or Dandy-Walker malformation.

The prognosis is reserved.

Anesthetic implications:

difficult peripheral and central venous access (contractures). Risk of difficult mask ventilation and/or intubation (micrognathia). Carefully position the child. NO succinylcholine: risk of hyperkalemia ? Risk of hypermetabolic response during anesthesia (but no association with malignant hyperthermia). Sometimes mental retardation or epilepsy. Potential difficulties to achieve a peripheral nerve block with a neurostimulator (muscle contractures, anatomical variants) or with ultrasound (abnormal echogenicity of fibrotic muscles). Difficult neuraxial block in case of scoliosis.

References : 

Updated: July 2019