Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs

Abstract

We describe a sib pair with craniofacial anomalies, micrognathia, Mobius sequence, generalised myopathy, relative macrocephaly, and developmental delay. They appear to have the Carey-Fineman-Ziter syndrome (MIM 254940), which has been reported in only four children, a sib pair and two sporadic cases. This report on an additional affected brother and sister pair supports autosomal inheritance as the likely cause. These cases also confirm that scoliosis, talipes equinovarus, and a non-specific primary myopathy are important manifestations of Carey-Fineman-Ziter syndrome.