We studied a patient with Klippel-Feil anomaly and subclavian steal due to isolation of the right subclavian artery. Other anomalies included hypoplasia of the right clavicle and right vertebral artery, low bifurcation of the left common carotid artery and left choanal atresia. The patient was mentally retarded with corticospinal, cerebellar, and brain stem signs. The entire brain and cervical spinal cord were small; there was no central nervous system malformation, hydrocephalus, or bony impingement on neural structures. Embryologic vascular disorders have been found to be responsible for various congenital systemic and neurologic anomalies such as intestinal atresia and hydranencephaly. Subclavian artery supply disruption sequence has been hypothesized to result in Klippel-Feil, Poland, and Möbius anomalies. In this case the vertebral and facial abnormalities may well be related to anomalous subclavian and carotid supply. An embryonic vascular "steal" has been thought to cause the sirenomelia anomaly. We postulate that the subclavian steal, during the embryonic period, may have been responsible for the small size of this patient's cerebral hemispheres, brain stem, cerebellum, and cervical spinal cord.

Chiari I malformation, a congenital abnormality in which deformed cerebellar tonsils are displaced downward through the foramen magnum, commonly presents in patients with headache or symptoms of dysfunction of the cerebellum, brain stem, and cervical spinal cord. We report 11 children with Chiari I malformation who presented with seizures and developmental delay in motor or language function with or without autistic features. To our knowledge, an association between Chiari I malformation and seizures or neurodevelopmental deficits or both has not been previously reported. We believe that Chiari I malformation should not be considered an incidental finding in these patients, but may be a marker for subtle cerebral dysgenesis. Chiari I and II malformations may constitute a complex but continuous spectrum, related to the timing and severity of a shared underlying embryologic mechanism.

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A severe anemia seems to put the fetus at risk of cerebellar damage, despite successful intravascular transfusion.