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. Author manuscript; available in PMC: 2023 Feb 13.
Published in final edited form as: Genet Med. 2022 Mar 14;24(6):1227–1237. doi: 10.1016/j.gim.2022.02.005

Figure 3. X-rays of 2 fetuses with ARCN1-related syndrome.

Figure 3

A. X-rays of fetus with c.307_311delTCTGA (p.S103AfsX4) variant after termination of pregnancy at 21 weeks gestation. There is generalized decreased bone density of the skull with brachycephaly. The thorax is narrow with short and narrow ribs. Bilateral upper and lower extremity are short with foreshortened humeri, radius, ulna, femori, and tibia. B. X-rays of fetus with c. 1241+1GA>A variant after intrauterine fetal demise at 25 weeks gestation. Notable findings include shortened humeri, forearms, femurs, and tibula/fibula; micrognathia; and bell-shaped thorax.