Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.

Abstract

Recently, we evaluated a 27-month-old boy with congenital generalized nonspecific myopathy, Möbius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 [J Pediatr 101:353-364] and as such represents only the third example of this unusual syndrome. Review of the large number of conditions in which the Robin sequence occurs supports heterogeneity. Our case strengthens the Möbius-Robin association and further defines the Carey-Fineman-Ziter syndrome as a viable entity. It is most likely inherited as an autosomal recessive trait.

• Authors: R N Schimke, D L Collins, J M Hiebert
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 46 Issue 6 Pg. 721-3 (Jul 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8362917 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple
• Child, Preschool
• Humans
• Male
• Muscular Diseases (congenital, physiopathology)
• Syndrome