PMC10369054_01
Anterior and side view of the male (A) and the female (B). Pictures show the generalized loss of subcutaneous adipose tissue leading to prominence of muscular hypertrophy (more evident in the lower limbs) and prominent veins. The male patient has also progeroid facial features and an obliged posture on his toes, while the female has an acromegaloid appearance.
fendo-14-1212729-g001.jpg
PMC10369054_03_fendo-14-1212729-g001.jpg
f1
No acanthosis nigricans was visible (Figure 1). Cervical X-ray detected atlantoaxial instability with predental space of 2.5 mm in neutral position, which increased to 4 mm during flexion (Supplementary Figure S1A); the spinal column X-ray revealed mild scoliosis (Supplementary Figure S1B). The hand and wrist radiography showed a bone age 1 year advanced, with no signs of cystic lesions, but like her brother, a reduction in the calcium content with alteration of the trabecular bone mass was observed (Supplementary Figure S1C). MRI was very similar to patient 1, showing generalized loss of adipose tissue (Figure 2). Musculoskeletal ultrasound revealed dystrophic changes in muscle fibers with adipocytes infiltrations (Supplementary Figure S1D).
MRI imaging. T1-weighted MR imaging of patients 1 and 2 in comparison with a normal subject at different levels. Adipose tissue has a high signal intensity (brightness) on MRI T1-weighted images. When compared to normal subjects, the two patients have marked loss of subcutaneous fat, except for retro-orbital and bone marrow fat.
fendo-14-1212729-g002.jpg
PMC10369054_03_fendo-14-1212729-g002.jpg
f2
MRI was very similar to patient 1, showing generalized loss of adipose tissue (Figure 2). Musculoskeletal ultrasound revealed dystrophic changes in muscle fibers with adipocytes infiltrations (Supplementary Figure S1D). The variant, validated by Sanger sequencing, was inherited from the parents who were both heterozygous for this mutation (Supplementary Figure S2).
PMC10369054_02
PMC10369054_03
Anterior and side view of the male (A) and the female (B). Pictures show the generalized loss of subcutaneous adipose tissue leading to prominence of muscular hypertrophy (more evident in the lower limbs) and prominent veins. The male patient has also progeroid facial features and an obliged posture on his toes, while the female has an acromegaloid appearance.
fendo-14-1212729-g001.jpg
PMC10369054_03_fendo-14-1212729-g001.jpg
f1
No acanthosis nigricans was visible (Figure 1). Cervical X-ray detected atlantoaxial instability with predental space of 2.5 mm in neutral position, which increased to 4 mm during flexion (Supplementary Figure S1A); the spinal column X-ray revealed mild scoliosis (Supplementary Figure S1B). The hand and wrist radiography showed a bone age 1 year advanced, with no signs of cystic lesions, but like her brother, a reduction in the calcium content with alteration of the trabecular bone mass was observed (Supplementary Figure S1C). MRI was very similar to patient 1, showing generalized loss of adipose tissue (Figure 2). Musculoskeletal ultrasound revealed dystrophic changes in muscle fibers with adipocytes infiltrations (Supplementary Figure S1D).
MRI imaging. T1-weighted MR imaging of patients 1 and 2 in comparison with a normal subject at different levels. Adipose tissue has a high signal intensity (brightness) on MRI T1-weighted images. When compared to normal subjects, the two patients have marked loss of subcutaneous fat, except for retro-orbital and bone marrow fat.
fendo-14-1212729-g002.jpg
PMC10369054_03_fendo-14-1212729-g002.jpg
f2
MRI was very similar to patient 1, showing generalized loss of adipose tissue (Figure 2). Musculoskeletal ultrasound revealed dystrophic changes in muscle fibers with adipocytes infiltrations (Supplementary Figure S1D). The variant, validated by Sanger sequencing, was inherited from the parents who were both heterozygous for this mutation (Supplementary Figure S2).