case_images: PMC10837278_01
case_images: clinical photographs of our patient showing specific dysmorphic features; A) long face, broad and high forehead, hypertelorism, almond-shaped eyes, mildly down slanted palpebral fissures, broad nasal tip, long philtrum, thin upper lip, small mouth, B) micrognathia and short neck; extremities, C) brachydactyly, tapered fingers, clinodactyly of the 5th finger, D) gap between first and second toe
case_images: PAMJ-46-84-g001.jpg
case_images: PMC10837278_01_PAMJ-46-84-g001.jpg
case_images: F1
case_images: He also had a short neck, widely spaced and inverted nipples and dysmorphic extremities with brachydactyly, tapered fingers, straight ulnar side of the palm, clinodactyly of the 5th finger and a gap between first and second toe (Figure 1).
case_images: chest X-ray (antero-posterior view)
case_images: PAMJ-46-84-g002.jpg
case_images: PMC10837278_01_PAMJ-46-84-g002.jpg
case_images: F2
case_images: Diagnostic assessment: serial chest X-rays were done throughout his hospital admissions and were consistently showing cardiomegaly, hyperinflation of the lungs, interstitial image and poor peripheral perfusion (Figure 2).
case_images: high resolution computed tomography of the chest (axial view)
case_images: PAMJ-46-84-g003.jpg
case_images: PMC10837278_01_PAMJ-46-84-g003.jpg
case_images: F3
case_images: A high-resolution CT chest showed a picture suggestive of interstitial lung disease with ground glass opacities, mosaic attenuation, fibrosis and hypoperfusion of both lungs' fields (Figure 3).
case_images: perfusion scan (coronal view)
case_images: PAMJ-46-84-g004.jpg
case_images: PMC10837278_01_PAMJ-46-84-g004.jpg
case_images: F4
case_images: Finally, a Pulmonary Perfusion Scan (without ventilation) was done, and the images were suggestive for chronic thromboembolic disease with multiple perfusion defects in both lungs (Figure 4).