PMC8139683_01
Clinical and radiological features of patient 1: (A) short stature and facial profile; (B) small hand and short fingers; (C) delayed bone age and cone shaped epiphysis; (D) beak-like femoral heads.
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He presented with short stature, short limbs, short and stubby hands and feet, and mild facial dysmorphism: round face, flat nose with anteverted nostrils, prominent philtrum, and thick lips (Figure 1). The radiograph of the left hand revealed that his bone age was six years, with cone shaped epiphysis (Figure 1). The pelvis radiograph revealed beak-like femoral heads (Figure 1).
PMC8139683_02
Clinical and radiological features of patient 2 and patient 3: (A-D) The presence of small hands, but without joint contracture; (E-G) The images of the left hand, pelvis and vertebral column of patient 2 revealed shortened tubular bones in the hands and beak-like femoral heads.
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He also had wide and short hands (Figure 2).
PMC8139683_03
Clinical and radiological features of patient 2 and patient 3: (A-D) The presence of small hands, but without joint contracture; (E-G) The images of the left hand, pelvis and vertebral column of patient 2 revealed shortened tubular bones in the hands and beak-like femoral heads.
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He also had wide and short hands (Figure 2).