Pena-Shokeir type 1, syndrome
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(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 :
Updated: March 2018