case_images: PMC11724420_01
case_images: (A) The patient had peculiar facial features (i.e., prominent forehead, flat face, wide eye spacing, low nasal bridge, downward corner of the mouth, mild ectropion of the upper lip, and enamel hypoplasia). (B) Her fingers were short, and her palm was short and wide. (C) X-ray showed enlarged cardiac shadow, thickened and disordered lung markings, scattered patchy high-density shadows in both lungs, primarily in the right lung and (D) results of genetic testing. The red arrow marked area indicates the patient's gene deletion fragments.
case_images: 10.1177_03000605241310844-fig1.jpg
case_images: PMC11724420_01_10.1177_03000605241310844-fig1.jpg
case_images: fig1-03000605241310844
case_images: Results suggested that the infant had a 17p11.2 (chr17:16836379_20355202) x1 deletion with a deletion length of 3.52 Mb. (Figure 1(d)). On admission to hospital, she presented with cyanotic lips, puffy eyelids and peculiar facial features (Figure 1(a)). Her fingers were short and her, palms were short and wide (Figure 1(b)). Chest X-ray showed an enlarged cardiac shadow, thickened and irregular lung markings, along with scattered patchy high-density opacities in both lungs, primarily in the right lung (Figure 1(c)).
case_images: (A) Ventricular septal defect (VSD) was seen in the short-axis section of the great arteries on ultrasonic cardiography (AO, aorta; PA, pulmonary artery). (B & C) Cardiac colour doppler ultrasound showed mitral and tricuspid regurgitation in the apical four-chamber view (white arrow). (D) Computed tomography (CT) scan of the head (sagittal plane) showing hypoplasia of the cerebellar vermis and cystic dilatation of the fourth ventricle. (E) CT scan of the head (transverse plane) showing enlarged posterior fossa and cyst on the left side of the cisterna magna and (F) CT scan of the head showing dilatation of the cerebral and third ventricles, enlarged posterior fossa, and hydrocephalus.
case_images: 10.1177_03000605241310844-fig2.jpg
case_images: PMC11724420_01_10.1177_03000605241310844-fig2.jpg
case_images: fig2-03000605241310844
case_images: Ultrasonic cardiography showed: congenital heart disease: ventricular septal defect (VSD); bi-directional shunts at the ventricular level; enlargement of the whole heart; mitral regurgitation (moderate); tricuspid regurgitation (severe); pulmonary regurgitation (mild); left ventricular ejection fraction (LVEF), 31%; pulmonary arterial hypertension (PAH; systolic pressure, >70 mmHg) (Figures 2(a), (b), and (c)). Head CT scans showed a cyst in the posterior cranial fossa linked to the fourth ventricle, a small cerebellar vermis, and supratentorial hydrocephalus (Figures 2(d), (e), (f)).