case_images: PMC8397523_01
case_images: Clinical informations of the family members. (A) III-1. (B) III-2. Growth charts of the probands. Heights and weights are shown as black points. GH, Growth hormone; GnRH, gonadotropin-releasing hormone. (C) Pedigree of the family with familiar short stature. Shaded symbols indicate patients with stature below 2 SD; empty symbols with "WT" (Wild Type) are family members without mutations; empty symbols indicate family members who have not undergone ACAN sequencing.
case_images: fgene-12-708864-g0002.jpg
case_images: PMC8397523_01_fgene-12-708864-g0002.jpg
case_images: F2
case_images: Maternal family history of short stature was described: the grandfather's height (I-2) was 152 cm (-3.9 SD), the grandmother's height (I-1) was 156 cm (-1.12 SD) and the height of the grandfather's sister (I-3) was 150 cm (-2 SD) (Figure 2C).
case_images: PMC8397523_02