Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.

作者: Dionisia AC Lamonica , Dagma VM Abramides , Luciana P Maximino , Mariana G Gejao , Greyce K da Silva

DOI: 10.1002/AJMG.A.32787

关键词:

摘要: We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis splenium corpus callosum, minor anomalies face limbs, mild mental retardation, speech disabilities. The occurrence pilomatricoma (calcifying epithelioma) may be part clinical spectrum or fortuitous finding. Compared to other related conditions LVNC suggests that this is "new" unique pattern MCA/MR syndrome.

参考文章(47)
Kula S, Tunaoğlu Fs, Olguntürk R, Oztürk G, Noncompaction with arcus aorta anomalies. Turkish Journal of Pediatrics. ,vol. 45, pp. 363- ,(2003)
Bunyamin Kisacik, Umut Kalyoncu, Abdurrahman Tufan, Meral Calguneri, Ali Akdogan, Omer Karadag, Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3. Journal of The National Medical Association. ,vol. 98, pp. 1692- 1693 ,(2006)
R. Engberding, T. M. Yelbuz, G. Breithardt, Isolated noncompaction of the left ventricular myocardium -- a review of the literature two decades after the initial case description. Clinical Research in Cardiology. ,vol. 96, pp. 481- 488 ,(2007) , 10.1007/S00392-007-0528-6
C. T. Spencer, R. M. Bryant, J. Day, I. L. Gonzalez, S. D. Colan, W. R. Thompson, J. Berthy, S. P. Redfearn, B. J. Byrne, Cardiac and Clinical Phenotype in Barth Syndrome Pediatrics. ,vol. 118, ,(2006) , 10.1542/PEDS.2005-2667
H. Noguchi, K. Kayashima, S. Nishiyama, T. Ono, Two cases of pilomatrixoma in Turner's syndrome. Dermatology. ,vol. 199, pp. 338- 340 ,(1999) , 10.1159/000018286
M FRIEDMAN, S WISEMAN, L HARAMATI, G GORDON, D SPEVACK, Noncompaction of the left ventricle in a patient with dextroversion European Journal of Echocardiography. ,vol. 8, pp. 70- 73 ,(2007) , 10.1016/J.EUJE.2005.12.011
Simon Wood, Dai Nguyen, Kim Hutton, William Dickson, Pilomatricomas in Turner Syndrome Pediatric Dermatology. ,vol. 25, pp. 449- 451 ,(2008) , 10.1111/J.1525-1470.2008.00732.X
T K Chin, J K Perloff, R G Williams, K Jue, R Mohrmann, Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. ,vol. 82, pp. 507- 513 ,(1990) , 10.1161/01.CIR.82.2.507
Nobuko Kanemoto, Hitoshi Horigome, Junko Nakayama, Fukiko Ichida, Yanlin Xing, Antonia Lucia Buonadonna, Katsuyoshi Kanemoto, Mattia Gentile, Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium European Journal of Medical Genetics. ,vol. 49, pp. 247- 253 ,(2006) , 10.1016/J.EJMG.2005.06.004