Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, sh
ort fingers, preaxial polydactyly, congenital heart disease, hypogenit
alism, cryptorchidism, obesity, umbilical hernia and mental retardatio
n. Here we report two affected sibs (IQs were 80 and 93) presenting va
rious cerebrospinal malformations, ie frontal lobe deformity, narrowed
foramen magnum, hypoplastic posterior fossa, kinked spinal ford, and
syrinx cavitation demonstrated by magnetic resonance imaging. Clin Dys
7: 185-189. (C) Lippincott-Raven Publishers.