Carey-Fineman-Ziter syndrome

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

Scoliosis

The presence of an abnormal lateral curvature of the spine.


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PMID (PMCID)
9934972
MIXED_SAMPLE Infant, Newborn
Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs.
Ryan A, Marshall T, FitzPatrick DR.
Am J Med Genet. 1999;82(2):110-3.
These cases also confirm that scoliosis, talipes equinovarus, and a non-specific primary myopathy are important manifestations of Carey-Fineman-Ziter syndrome.