Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects

Clin Genet. 1994 Jun;45(6):318-22. doi: 10.1111/j.1399-0004.1994.tb04040.x.

Abstract

We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities
  • Cutis Laxa / congenital*
  • Cutis Laxa / genetics
  • Dandy-Walker Syndrome / genetics*
  • Developmental Disabilities / genetics
  • Dystonia
  • Female
  • Genes, Recessive*
  • Heart Defects, Congenital
  • Hip Dislocation, Congenital
  • Humans
  • Infant, Newborn
  • Ligaments / physiopathology