Fig. 2: Clinical and radiological images of subject 1 at the age of 8 years and of subject 2 at the age of 6 years with the homozygous COL25A1 c.1730G > A; p.(Gly577Glu) variant. | European Journal of Human Genetics

Fig. 2: Clinical and radiological images of subject 1 at the age of 8 years and of subject 2 at the age of 6 years with the homozygous COL25A1 c.1730G > A; p.(Gly577Glu) variant.

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

Fig. 2

A, B Both brothers show similar facial features and joint contractures with pterygium of multiple joints. Subject 2 has ptosis of the left eye (B). C X-ray of the spine shows S-shaped scoliosis in subject 1. D Subject 1 shows limited extension of the left knee and a scar on the right knee from previous surgery to correct arthrogryposis. E The right hand of subject 1 shows camptodactyly and faded dermatoglyphics with small thenar and hypothenar eminences. F X-ray of lower limbs reveals flattened knee epiphyses and mild metaphyseal widening in the femur and tibia of subject 1.

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