PMC5266800_01
Photos of the proband taken at 6 weeks: (a) plagiocephaly with prominent coronal sutures. (b) Turricephaly. (c, d) Arachnodactyly.   Oxford Medical Illustration.
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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).
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.
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fig2
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).
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.
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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).
Postsurgical echocardiographic features of the proband: apical 4-chamber view demonstrating reduced mitral regurgitation.
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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).