Fig. 3: Photographs of subject 6 taken at autopsy following pregnancy termination at 25 weeks’ gestation. | European Journal of Human Genetics

Fig. 3: Photographs of subject 6 taken at autopsy following pregnancy termination at 25 weeks’ gestation.

From: Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes

Fig. 3

A Full body front view of the fetus showing hydrops with profound edema of the face, head, and neck. The fetus had a small chin, thin lips, and a high, hairy forehead. B Full body back view showing the large head edema and curvature of the spine. C, D The fetus showed arthrogryposis with multiple pterygia and edema affecting all limbs.

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