CEREBRAL MALFORMATIONS IN CARPENTER SYNDROME

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosyn ostosis with polydactyly and syndactyly, and craniosynostosis with oth er somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndr ome consists of craniosynostosis, short fingers, soft tissue syndactyl y, preaxial polydactyly, congenital heart disease, hypogenitalism, obe sity, and umbilical hernia. As many as three-fourths of the patients h ave some degree of intellectual impairment. The etiology of mental ret ardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmenta l delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndrome s, neuroradiologic examination may help in predicting the intellectual outcome in these patients.