case_images: PMC5266800_01
case_images: Photos of the proband taken at 6 weeks: (a) plagiocephaly with prominent coronal sutures. (b) Turricephaly. (c, d) Arachnodactyly.   Oxford Medical Illustration.
case_images: CRIPE2017-8952428.001.jpg
case_images: PMC5266800_01_CRIPE2017-8952428.001.jpg
case_images: fig1
case_images: Her head was plagiocephalic with prominent coronal sutures and a posteriorly positioned anterior fontanelle, and her posterior skull was turricephalic with a cone shape (see Figure 1). Her fingers and toes appeared elongated (arachnodactyly), although lengths were not objectively measured, and her thumb held abducted (see Figure 1).
case_images: Presurgical echocardiographic features of the proband: (a) apical 4-chamber view demonstrating mitral regurgitation. (b) Apical 4-chamber view demonstrating tricuspid regurgitation. (c) Subcostal 4-chamber view demonstrating atrial septal defect. (d) Parasternal long axis view demonstrating mitral valve prolapse and aortic root dilatation.
case_images: CRIPE2017-8952428.002.jpg
case_images: PMC5266800_01_CRIPE2017-8952428.002.jpg
case_images: fig2
case_images: In addition, echocardiography demonstrated atrioventricular valve prolapse, tricuspid regurgitation, a dysplastic mitral valve with mitral regurgitation, an increase in right ventricular pressure, and pulmonary hypertension (see Figure 2).
case_images: CT scan taken at 7 months: (a) enlarged left atrium and dilated pulmonary trunk. (b) Atrial septal defect. (c) Dilated aortic root and patent ductus arteriosus.
case_images: CRIPE2017-8952428.003.jpg
case_images: PMC5266800_01_CRIPE2017-8952428.003.jpg
case_images: fig3
case_images: Echocardiogram revealed worsening regurgitation, dilated pulmonary arteries, and pulmonary hypertension and a CT scan additionally demonstrated right sided cardiac enlargement, an atrial septal defect, and a patent ductus arteriosus (see Figure 3).
case_images: Postsurgical echocardiographic features of the proband: apical 4-chamber view demonstrating reduced mitral regurgitation.
case_images: CRIPE2017-8952428.004.jpg
case_images: PMC5266800_01_CRIPE2017-8952428.004.jpg
case_images: fig4
case_images: A postoperative transthoracic echo in PICU confirmed good surgical results with good biventricular function, mild mitral regurgitation, and mild-moderate tricuspid regurgitation (see Figure 4).