Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.
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.
Brueton
L A
LA
Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex, United Kingdom. l.brueton@ic.ac.uk
Huson
S M
SM
Cox
P M
PM
Shirley
I
I
Thompson
E M
EM
Barnes
P R
PR
Price
J
J
Newsom-Davis
J
J
Vincent
A
A
D000015:Abnormalities, Multiple / Q000209:etiology; D000328:Adult; D001176:Arthrogryposis / Q000209:etiology; D001323:Autoantibodies / Q000097:blood; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000209:etiology* / Q000235:genetics; D005192:Family Health; D005260:Female; D005313:Fetal Death; D006801:Humans; D018476:Hypokinesia / Q000209:etiology; D008297:Male; D009157:Myasthenia Gravis / Q000150:complications*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications; D011863:Radioimmunoassay; D011950:Receptors, Cholinergic / Q000276:immunology
D001323:Autoantibodies; D011950:Receptors, Cholinergic