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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.


Journal article


Am J Med Genet

Publication Date





1 - 6


Abnormalities, Multiple, Adult, Arthrogryposis, Autoantibodies, Child, Child, Preschool, Craniofacial Abnormalities, Family Health, Female, Fetal Death, Humans, Hypokinesia, Male, Myasthenia Gravis, Pedigree, Phenotype, Pregnancy, Pregnancy Complications, Radioimmunoassay, Receptors, Cholinergic