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. An abnormality of spinal cord motoneurons has been postulated in some cases. Pena-Shokier phenotype can also result from blockade of the neuromuscular junction, as shown by recent observations with women expressing antibodies against the fetal acetylcholine receptor. It has been shown that the Pena-Shokier phenotype may result from intrauterine cerebral dysfunction as well, including acquired brain insults and congenital brain malformations. The ultimate prognosis for children with this disorder is dependent on the underlying etiology and the severity of pulmonary disease. The authors report a fatal case of Pena-Shokier phenotype with congenital polymicrogyria. To our knowledge, the case presented is the first reported Pena-Shokier phenotype associated with this type of brain malformation.