A Child With Self-Improving Hypotonia: Look at the Skin!

J Pediatr. 2020 Oct:225:269-270. doi: 10.1016/j.jpeds.2020.05.057. Epub 2020 Jun 6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Contusions / etiology
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Humans
  • Infant
  • Kyphosis / surgery
  • Muscle Hypotonia / etiology*
  • Mutation
  • Peptidylprolyl Isomerase
  • Scoliosis / surgery

Substances

  • FKBP14 protein, human
  • Peptidylprolyl Isomerase

Supplementary concepts

  • Kyphoscoliosis 1