Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey

Am J Med Genet. 1990 Sep;37(1):6-9. doi: 10.1002/ajmg.1320370103.

Abstract

Congenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X-linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Cutis Laxa / congenital
  • Cutis Laxa / genetics*
  • Cutis Laxa / pathology
  • Developmental Disabilities / genetics*
  • Elastic Tissue / abnormalities
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Ligaments / pathology*
  • Male
  • Syndrome
  • X Chromosome