Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome

Acta Derm Venereol. 2013 Sep 4;93(5):579-80. doi: 10.2340/00015555-1526.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aldehyde Oxidoreductases / genetics
  • Anal Canal / abnormalities*
  • Child, Preschool
  • DNA Mutational Analysis
  • Esophagus / abnormalities*
  • Female
  • Genetic Predisposition to Disease
  • Heart Defects, Congenital / complications*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Heredity
  • Humans
  • Infant
  • Kidney / abnormalities*
  • Limb Deformities, Congenital / complications*
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Sjogren-Larsson Syndrome / complications*
  • Sjogren-Larsson Syndrome / diagnosis
  • Sjogren-Larsson Syndrome / genetics
  • Spine / abnormalities*
  • Trachea / abnormalities*

Substances

  • Aldehyde Oxidoreductases
  • long-chain-aldehyde dehydrogenase

Supplementary concepts

  • VACTERL association