case_images: PMC11059086_01
case_images: PMC11059086_02
case_images: Facial and body appearance of the patient. Physical examination showed multiple nevi (B-D), a triangle-shaped head (A) with a tall forehead and high anterior hairline, bilateral palpebral ptosis, low-set and posteriorly rotated ears, short neck with low posterior hairline (B). The patient also showed chest deformity (superior pectus carinatum and inferior pectus excavatum) with widely spaced and low-set nipples (C, D).
case_images: fendo-15-1354699-g001.jpg
case_images: PMC11059086_02_fendo-15-1354699-g001.jpg
case_images: f1
case_images: On clinical evaluation ( Figure 1 ), the following data were recorded: height 1.73 m, weight 60 kg, and BMI 20 kg/m2.
case_images: The LZTR1 variant identified by exome sequencing analysis and confirmation via Sanger sequencing. (A) The LZTR1 variant visualized by the Integrative Genomics Viewer (IGV) (reference base G in orange, variant base A in green) in the proband. (B) Sanger sequencing analysis of the LZTR1 variant visualized by SeqScape in the proband.
case_images: fendo-15-1354699-g002.jpg
case_images: PMC11059086_02_fendo-15-1354699-g002.jpg
case_images: f2
case_images: The variant was validated by Sanger sequencing ( Figure 2 ).