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English: Fig. 1. A. Placental examination showing moderate villous hydrops associated with large chorioangioma (left picture) and prenatal ultrasound showing polyhydramnios at 26 weeks of gestation (right picture). B. Brain MRI showing Dandy-Walker malformation with cerebellar hypoplasia (red asterisk). C. Front and lateral views of the patient showing facial dysmorphism including elongated face with high forehead, high arched eyebrows, ptosis and strabismus, low-set ears, long philtrum, thin upper lip, upturned corner of the mouth, and bilateral camptodactyly. D. Sanger sequencing identified a homozygous novel GLDC variant c.707G > A p.(Arg236Gln) in the propositus. The parents were heterozygous.