Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis

Prenat Diagn. 2006 Aug;26(8):750-2. doi: 10.1002/pd.1467.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / pathology
  • Adult
  • Amniocentesis / methods*
  • Amnion / metabolism
  • Amniotic Fluid / chemistry
  • Chondroitinsulfatases / deficiency
  • Chondroitinsulfatases / metabolism
  • Diagnosis, Differential
  • Equinus Deformity / pathology
  • Female
  • Fetus / surgery
  • Glycosaminoglycans / urine
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / etiology
  • Infant, Newborn
  • Keratan Sulfate / analysis
  • Mucopolysaccharidosis IV / complications
  • Mucopolysaccharidosis IV / diagnosis*
  • Pregnancy
  • Pregnancy Trimester, Second*

Substances

  • Glycosaminoglycans
  • Keratan Sulfate
  • Chondroitinsulfatases
  • GALNS protein, human