[Very severe spinal muscular atrophy--type 0. A cause of congenital multiple arthrogryposis].
A female infant born at term, with reduced fetal movements in utero, congenital multiple contractures, severe weakness at birth, and a short time of survival is described. The diagnosis was confirmed by identification of homozygous deletion of exons 7 and 8 of the SMNt gene. Severe spinal muscular atrophy should be considered in the differential diagnosis of reduced fetal movements.
Balslev
T
T
Arhus Universitetshospital, Skejby Sygehus, paediatrisk afdeling. skejtba@au.dk
Hertz
J M
JM
Rackauskaite
G
G
Sørensen
L A
LA
D001176:Arthrogryposis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005324:Fetal Movement / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000175:diagnosis / Q000235:genetics