THE COSTELLO SYNDROME - A BOY WITH THICK MITRAL-VALVES AND ARRHYTHMIAS

被引:22
作者
IZUMIKAWA, Y
NARITOMI, K
TOHMA, T
SHIROMA, N
HIRAYAMA, K
机构
[1] Department of Pediatrics, University of the Ryukyus School of Medicine, Nishihara, Okinawa, 903-01, Uehara
来源
JAPANESE JOURNAL OF HUMAN GENETICS | 1993年 / 38卷 / 03期
关键词
MALFORMATION SYNDROME; COSTELLO SYNDROME; ARRHYTHMIA; MITRAL VALVE DEFECTS;
D O I
10.1007/BF01874143
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 3-year-old boy with Costello syndrome is reported. He had typical clinical features of the syndrome including severe postnatal growth retardation, poor sucking, mild developmental delay, a coarse characteristic facies, thick and loose skin of the hands and feet, sparse and curly hair, dark skin, and relative macrocephaly but lacked nasal papillomas. In addition, he had cardiac anomalies with extrasystoles and thick mitral valve tips. Mitral valve defects may be a clinical feature of the syndrome.
引用
收藏
页码:329 / 334
页数:6
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