Carey-Fineman-Ziter syndrome

Carey-Fineman-Ziter syndrome describes the combination of hypotonia, Moebius sequence and Pierre-Robin sequence. The symptoms are bilateral congenital facial palsy, micrognathia, glossoptosis, cleft palate, complexion, and growth delays.

So far, the syndrome has only been described in 20 cases, and two sibling pairs.

The cause of hypotonia is either myopathic or central anomalies. In the case of nonspecific myopathy, severe scoliosis sometimes developed.

Some of the rarely identified features were anomalies of the brain, such as ventriculomegaly, reduced white matter, neuronal heterotypes, small bridges, small necrotic foci with microcalcifications, and a small brain stem.