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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

Fig. 1

The sonographic results of the foetus. A, D Polydactyly, and syndactyly. B The thoracoabdominal transverse diameter ratio was 0.66. C The abdominal organs of the foetus were in the opposite position of normal, i.e., in a mirror image position, with the gastric vacuole and descending aorta on the right, the apex of the heart facing right, and the gallbladder, and inferior vena cava (IVC) located on the left side. E, F: Abnormal rib curvature and narrow thorax. G Ultrasound measurements (Hadlock and Jeanty) based on gestational age. The FL, TIB, HL and ulnar values were below 2.4 SD, 2.8 SD, 4.3 SD and 3.2 SD, respectively, compared with the average. Abbreviations: L, left; R, right; IVC, inferior vena cava; AO, aorta; ST, stomach; BPD, biparietal diameter; HC, head circumference; AC, abdominal circumference; FL, femur length; TIB, tibia length; HL, humerus length

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