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Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage

Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA.

An infant with Pena-Shokeir phenotype was born to a cocaine-using mother. The pathologic findings included polyhydramnios, facial anomalies, arthrogryposis, camptodactyly, pulmonary hypoplasia, and tetralogy of Fallot. The neuropathologic findings were diffuse brainstem and spinal cord neuronal degeneration and focal cerebral infarction, consistent with acquired intrauterine is chemic damage.

Address correspondence and reprint requests to Dr. Ehud Lavi, Division of Neuropathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, 454 Johnson Pavilion, Philadelphia, PA 19104–6079.

Received September 5, 1990. Accepted for publication in final form February 18, 1991.

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