A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation

J Med Genet. 2004 Jun;41(6):e77. doi: 10.1136/jmg.2003.013573.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Calcium-Binding Proteins / genetics
  • Child
  • Child, Preschool
  • Cleft Palate / pathology*
  • Contractile Proteins / analysis
  • Cutis Laxa / pathology*
  • Elastin / genetics
  • Extracellular Matrix Proteins / analysis
  • Face / abnormalities*
  • Family Health
  • Fatal Outcome
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / pathology*
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Protein-Lysine 6-Oxidase / genetics
  • Skin / chemistry
  • Skin / pathology
  • Syndrome

Substances

  • Calcium-Binding Proteins
  • Contractile Proteins
  • Extracellular Matrix Proteins
  • elaunin
  • fibulin
  • oxytalan
  • Elastin
  • Protein-Lysine 6-Oxidase