case_images: PMC10794634_01
case_images: (A) Ultrasound at 22 + 1 weeks of gestation: left femur with a suspected fracture. (B) Ultrasound at 22 + 1 weeks of gestation: shortened right upper extremity. (C) Camptodactyly of digits II and V; extension was not possible. (D) Radiograph of the right lower limb and image of the left lower extremity illustrating bowing of the lower limb bones, affecting the tibia more than the femur. (E) Chest x-ray of the female full-term neonate displays a slightly enlarged heart and homogeneous ground-glass opacities of both lungs (in full-term neonates, the lungs are normally much more transparent). Note the missing ossification of the proximal humeral epiphysis in concert with an indistinct border of the metaphysis (white arrow). (F) Dilated right ventricle with D sign.
case_images: fped-11-1329404-g001.jpg
case_images: PMC10794634_01_fped-11-1329404-g001.jpg
case_images: F1
case_images: Neonatal Intensive Care Unit postnatally for respiratory distress syndrome. Notably, second-trimester prenatal ultrasound had earlier revealed multiple anomalies, including shortened and bowed limbs (Figures 1A,B), finger malposition, and intrauterine growth restriction. On admission, the chest x-ray was consistent with mild respiratory distress syndrome (Figure 1E). Within the first day of life, the respiratory condition of the newborn deteriorated, prompting intubation, surfactant administration, and initiation of milrinone due to pulmonary hypertension confirmed by echocardiography (Figure 1F). Radiological examination of the lower limbs indicated bowing of the long bones with metaphyseal broadening, metaphyseal osteopenia, and diaphyseal cortical thickening (Figure 1D).