Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance

Am J Med Genet A. 2011 Sep;155A(9):2288-92. doi: 10.1002/ajmg.a.34163. Epub 2011 Aug 10.

Abstract

We describe a 3-month-old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome. In addition, the patient had ligamentous laxity in the knee which is a rare finding of this syndrome. The mode of inheritance of Catel-Manzke syndrome is unknown. Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Disorders / genetics
  • Cleft Palate / genetics
  • Consanguinity
  • Female
  • Genes, Recessive
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Pierre Robin Syndrome / genetics*

Supplementary concepts

  • Catel Manzke syndrome