Genetic disorders leading to severe hyperlipidemia in children: A case report

Figure 1 The patient's facial and forearm features (long eye lobes, wide eye spacing, bulging nose, and black scratches on the forearms, which disappeared after treatment). A: Long eye fissures and bulbous nose; B: Wide eye distance and bulbous nose; C: Dark scratches on the forearms; D: Normal skin color on the forearm.

Figure 2 Mutation sites in the patient is JAG1 c. 2122_2125del. and the mutation site is not detected in the parental genotype. A: The patient carried heterozygous JAG1 c.2122_2125del; B: The patient’s father not carry JAG1 C.2122125DEL mutation site; C: The patient’s mother not carry JAG1 C.2122125DEL mutation site.