(MIM 208150, 300073)

(fetal akinesia sequence, arthrogryposis multiplex congenita - pulmonary hypoplasia)

Very rare. The result of a sequence of fetal akinesia or hypokinesia (few movements, absence of swallowing and fetal breathing movements, frequent polyhydramnios).

Association of:

-        ankylosis of all the joints of the limbs

-        camptodactyly

-        pulmonary hypoplasia

-        facial anomalies: inexpressive facies; micrognathism with arched palate and small mouth; hypertelorism; small, low set  and deformed ears;

Sometimes: cleft palate, heart, genitourinary, and central nervous system anomalies, rocker-bottom feet.

Generally lethal in the neonatal period or during the first year of life. Survival beyond the first year of life is exceptional.

Anesthetic implications:

respiratory failure; risk of difficult intubation. Difficult venous access and positioning because of contractures. A published but undocumented case report evokes two episodes of malignant hyperthermia at induction of anesthesia.

References : 

• Boesen PV, French CF. 
  Acute respiratory distress in Pena-Shokeir syndrome. 
  Ear, Nose , Throat J 2004 ; 83 : 972-3.
• Bakan M, Idin K, Karaaslan K, Ozturk E. 
  Anaesthesia for Orphan diseases: Anaesthetic management of a child with Pena-Shokeir syndrome. 
  Eur J Anaesthesiol, 2012; 29:595-6
• Tsujikawa S, Okutani R, Tsujii K, Oda Y. 
  Anesthetic management of three pediatric cases with Pena-Shokeir syndrome. 
  J Anesth 2012; 26:445-8
• Aydin G, Gencay I, Colak S.
  Anesthesia management of a newborn with Pena-Shokeir syndrome.
  J Clin Anesth 2018 ; 45 :71-2

Updated: March  2018