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

Journal article

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.

Authors: Brueton, L; Huson, S; Cox, P; Shirley, I; Thompson, E

• Publication status: Published
• Journal: American journal of medical genetics
• Volume: 92
• Issue: 1
• Pages: 1-6
• Publication date: 2000-05-01
• DOI: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h
• EISSN: 1096-8628
• ISSN: 0148-7299
• Language: English
• Keywords: Pregnancy; Autoantibodies; Myasthenia Gravis; Abnormalities, Multiple; Pedigree; Radioimmunoassay; Receptors, Cholinergic; Family Health; Hypokinesia; Fetal Death; Child, Preschool; Female; Male; Phenotype; Craniofacial Abnormalities; Arthrogryposis; Child; Adult; Humans; Pregnancy Complications