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Infantile systemic hyalinosis (OMIM 236490) is a progressive autosomal recessive disorder characterized by widespread deposition of hyaline material in many tissues leading to multiple subcutaneous skin nodules, gingival hypertrophy and joint contractures. The authors describe five children from four unrelated families, from the "mali (farmer)" community in Jodhpur, with the disorder. All of them had classical clinical features, and four died from severe infections between age of 7 mo to 3 y. Two affected children had the same, but novel mutation in the initiation codon, in homozygous form c.1 A > G; p. M1? in capillary morphogenesis protein-2 (CMG2), or ANTXR2 gene on chromosome 4q21.21. The other two parents had the same mutation in heterozygous form. It is likely that this is a founder mutation in this community.

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SUMMARY The results and value of conventional and axial angiocardiography were studied in 26 cases of atrioventricular discordance (AVD). The angiographic anatomy of this malformation was analyzed to determine the precise characteristics of atrioventricular and ventriculoarterial connections. The left and right ventricles in atrial situs solitus and levocardia show angiographic features that differ from those seen in atrial situs solitus and dextrocardia. The same differences are found in atrial situs inversus. Regardless of the type of ventriculoarterial connections, the ventricles maintain the same angiographic characteristics. The ventricular septum in AVD in situs solitus and levocardia and situs inversus and dextrocardia has a peculiar orientation. The use of axial angiocardiography facilitates detection and localization of the ventricular septal defect. In cases of malposition of the heart, the conventional frontal view allows visualization of the ventricular septum in all of its length. The axial projection is useful in diagnosing left ventricular outflow tract obstruction.ATRIOVENTRICULAR DISCORDANCE (AVD) is a congenital heart malformation that has received very wide clinical attention in the last decades. In AVD, by definition, the morphologic right atrium is connected to the morphologic left ventricle, and the morphologic left atrium is connected to the morphologic right ventricle.' These malformations are found in situs solitus as well as in situs inversus2 ' with either a right-sided (dextrocardia) or a left-sided (levocardia) cardiac apex. Materials and Methods Twenty-six patients with AVD were selected for this study. The diagnosis was suspected clinically of the basis of chest roentgenographic and electrocardiographic findings, and was confirmed angiocardiographically in all cases.The angiocardiographic study was made by injecting Conray 400 into the ventricles in all cases. Selective injections of contrast medium into the right and left atria also were performed in eight patients. The 26 patients were studied using the standard frontal and lateral projections. Biplane "four-chamber" views were obtained in four patients.The visceral situs was determined by: (1) analyzing the P wave of the ECG, (2) delineating the position of the major lobe of the liver in the chest film and the position and connection of the systemic veins, and (3) visualizing the atria either during the levophase of the angiocardiogram or by selective left and right atriograms. Each case was further analyzed with respect to (1) the type of atrioventricular connections, (2) the anatomic features of both ventricles and (3) the ventriculoarterial connections. ResultsWe studied 13 males and 13 females, ages 21 months to 21 years. Eighteen patients had atrial situs solitus; 14 had levocardia and four had dextrocardia. The other eight patients had atrial situs inversus, including two with dextrocardia and six with levocardia. Sixteen of our patients had transposition of the great arteries (ventriculoarterial discordance), six had doub...

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