De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation

Clin Dysmorphol. 2017 Jul;26(3):187-189. doi: 10.1097/MCD.0000000000000180.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Child
  • DNA Mutational Analysis
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Facies
  • Fibrillin-1 / genetics
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lens Subluxation / diagnosis*
  • Lens Subluxation / genetics
  • Male
  • Marfan Syndrome / complications*
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics
  • Mutation
  • Myosin Heavy Chains / genetics
  • Phenotype
  • Williams Syndrome / complications*
  • Williams Syndrome / diagnosis*
  • Williams Syndrome / genetics

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • MYH11 protein, human
  • Myosin Heavy Chains