Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality

Clin Genet. 1986 Feb;29(2):133-6. doi: 10.1111/j.1399-0004.1986.tb01236.x.


A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Cutis Laxa / congenital
  • Cutis Laxa / genetics*
  • Cutis Laxa / physiopathology
  • Developmental Disabilities / genetics*
  • Female
  • Fetal Growth Retardation / genetics
  • Genes, Lethal
  • Growth Disorders / congenital
  • Growth Disorders / genetics*
  • Humans
  • Infant
  • Ligaments / physiopathology
  • Motor Skills*
  • Pedigree
  • Pregnancy
  • Sex Factors