Carpenter syndrome: report of two siblings

Abstract

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various 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.