case_images: PMC10702128_01
case_images: The clinical images, radiological characteristics, pedigree, and co-segregation of the COMP mutation in the Family 1. (A, B) Clinical photographs show short-limb dwarfism in the proband (A) and her mother (B). (C-G), The radiological characteristics of the proband's mother. Brachydactyly of hands and shorter distal ulna; (C) osteoarthritic changes in the knee; (D) normal pelvis; (E) normal vertebrae and lumbar (F), and no scoliosis (G). (H) Pedigree of family 1. (I) Consequence of Sanger sequencing.
case_images: fendo-14-1267946-g001.jpg
case_images: PMC10702128_01_fendo-14-1267946-g001.jpg
case_images: f1
case_images: Her mother and sister exhibited a similar phenotype, characterized by brachydactyly, a waddling gait, genu varum, mild thoracic deformity, and restricted extension at the elbows in the upper limbs ( Figures 1A, B  and  Table 1 ). However, X-ray images of the proband's mother revealed brachydactyly of the hands, a short distal ulna, and mild osteoarthritis in the knee joints ( Figures 1C-G ). Her son exhibited short stature (79.5 cm) and displayed clinical features similar to those of his mother, including disproportionately short limbs, a waddling gait, genu varum, and restricted extension of the upper limbs at the elbows ( Figures 2A, B  and  Table 1 ).
case_images: The clinical images, radiological characteristics, pedigree and co-segregation of the COMP mutation in family 2. (A, B) The clinical photographs depict short-limb dwarfism in both the proband (A) and her son (B). (C-G), Highlighting the radiological characteristics of the proband's son. Brachydactyly of the hand, along with flared metaphyseal borders of the distal radius and ulna (C). Presence of irregular and rough epiphyseal ends in long bones (D). Scoliosis (E). Notable findings include a shortened inferior pubic ramus, an increased pubic-ischial line width, and widening of the linea aspera of the femur (F). Magnetic resonance imaging of the proband's father indicates joint effusion (G). (H) Pedigree of family 1. (I) Consequence of sanger sequencing. (J) For II-3, WES analysis revealed that the c.1304A>T variant was present in 15% of the reads.
case_images: fendo-14-1267946-g002.jpg
case_images: PMC10702128_01_fendo-14-1267946-g002.jpg
case_images: f2
case_images: Her son exhibited short stature (79.5 cm) and displayed clinical features similar to those of his mother, including disproportionately short limbs, a waddling gait, genu varum, and restricted extension of the upper limbs at the elbows ( Figures 2A, B  and  Table 1 ). Figure 2C ). Furthermore, irregular and rough epiphyseal ends of long bones were observed, along with widened metaphyses and smaller epiphyses in the bilateral femurs and tibias, accompanied by widened joint spaces and abnormal internal knee rotation ( Figure 2D ). Scoliosis and tongue-like projections of the vertebral bodies were also noted, although there were no signs of vertebral gap narrowing ( Figure 2E ). Moreover, there was a shortened inferior pubic ramus, an increased pubic-ischial line width, and a widening of the linea aspera of the femur ( Figure 2F ). In contrast, the proband's father showed no significant clinical features apart from joint effusion observed during imaging ( Figure 2G ).