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.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.


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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.
8362917
 MALE
Congenital nonprogressive myopathy with Mobius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.
Schimke RN, Collins DL, Hiebert JM.
Am J Med Genet. 1993;46(6):721-3.
Congenital nonprogressive myopathy with Mobius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.