Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents

Am J Med Genet. 1992 Feb 15;42(4):467-9. doi: 10.1002/ajmg.1320420411.

Abstract

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Blepharophimosis*
  • Child
  • Cleft Palate*
  • Consanguinity
  • Female
  • Genes, Recessive
  • Humans
  • Marfan Syndrome*
  • Psychomotor Disorders
  • Syndrome