Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures.
An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.
Kirkinen
P
P
Herva
R
R
Leisti
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001176:Arthrogryposis / Q000175:diagnosis; D003286:Contracture / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D004487:Edema / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005324:Fetal Movement; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography