CARPENTER SYNDROME - REPORT OF 2 SIBLINGS

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.