Pena-Shokier phenotype: case presentation and review.

Pena-Shokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and Pena-Shokier syndrome type I. The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit.