Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype

Am J Med Genet. 2000 May 1;92(1):1-6. doi: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h.

Abstract

We report six sibs with arthrogryposis multiplex congenita and a Pena-Shokeir phenotype, born to a healthy woman who was discovered to have asymptomatic myasthenia gravis (MG). This is the first report of anti-acetylcholine receptor (AChR) antibodies causing fetal akinesia/hypokinesia sequence in the offspring of an asymptomatic mother.

MeSH terms

  • Abnormalities, Multiple / etiology
  • Adult
  • Arthrogryposis / etiology
  • Autoantibodies / blood
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / etiology*
  • Craniofacial Abnormalities / genetics
  • Family Health
  • Female
  • Fetal Death
  • Humans
  • Hypokinesia / etiology
  • Male
  • Myasthenia Gravis / complications*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Pregnancy Complications
  • Radioimmunoassay
  • Receptors, Cholinergic / immunology

Substances

  • Autoantibodies
  • Receptors, Cholinergic