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

We describe a sib pair with craniofacial anomalies, micrognathia, Mobius se quence, generalised myopathy, relative macrocephaly, and developmental dela y. 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 au tosomal inheritance as the likely cause. These eases also confirm that scol iosis, talipes equinovarus, and a non-specific primary myopathy are importa nt manifestations of Carey-Fineman-Ziter syndrome. (C) 1999 Wiley-Liss, Inc .