PMC9679404_01
Growth and development of the proband within 3 years after birth. Note: weight and body mass index (BMI): normal nutrition and growth before the age of 1 year; moderate nutrition and insufficient weight gain after the age of 1 year; improved nutrition and growth after liver transplantation. Length/height: normal length/height and growth before the age of 1 year; inadequate growth after the age of 1 year; no improvement after liver transplantation, showing growth retardation. By now, the proband has a symmetrical short stature.
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F1
On physical examination, her height, weight, and head circumference were 86 cm, 11 kg, and 46 cm, respectively (Figure 1).
Clinical data of the proband. (A) End-stage liver disease, accompanying distension over the whole abdomen and severe yellowing of the skin. (B) Upper abdominal plain CT scan: (a). enlarged liver with a coarse, nodular texture and serrated capsule. (b). Enlarged spleen. (c). Ascites. (C) Lesion liver, an enlarged liver with a diffuse, gray-green coarsely granular appearance to the surface. (D) Proband 6 months after the transplantation, aged 3 years and 7 months, showing a symmetrical short stature with height 93 cm (3rd-15th) and weight 13.8 kg (15th-50th).
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F2
She was regularly followed-up postoperatively for 1.5 years until now, presenting normal aminotransferase, peripheral blood cells, blood glucose, and a symmetrical short stature (Figure 2D).
PMC9679404_02
Clinical data of the proband. (A) End-stage liver disease, accompanying distension over the whole abdomen and severe yellowing of the skin. (B) Upper abdominal plain CT scan: (a). enlarged liver with a coarse, nodular texture and serrated capsule. (b). Enlarged spleen. (c). Ascites. (C) Lesion liver, an enlarged liver with a diffuse, gray-green coarsely granular appearance to the surface. (D) Proband 6 months after the transplantation, aged 3 years and 7 months, showing a symmetrical short stature with height 93 cm (3rd-15th) and weight 13.8 kg (15th-50th).
fgene-13-1033944-g002.jpg
PMC9679404_02_fgene-13-1033944-g002.jpg
F2
She was regularly followed-up postoperatively for 1.5 years until now, presenting normal aminotransferase, peripheral blood cells, blood glucose, and a symmetrical short stature (Figure 2D).