Early‐onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis

PM Cox, LA Brueton, KW Murphy… - American journal of …, 1999 - Wiley Online Library
We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation,
respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus …