COARCTATION OF THE AORTA IN KABUKI SYNDROME

被引:48
作者
HUGHES, HE
DAVIES, SJ
机构
[1] Institute of Medical Genetics, University Hospital of Wales, Cardiff CF4 4XW, Heath Park
关键词
D O I
10.1136/adc.70.6.512
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxtaductal coarctation occurs with a frequency of 25%.
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收藏
页码:512 / 514
页数:3
相关论文
共 10 条
[1]  
CLARK EB, 1987, GENETICS CARDIOVASCU, P3
[2]   3 PATIENTS WITH RING (X)-CHROMOSOMES AND A SEVERE PHENOTYPE [J].
DENNIS, NR ;
COLLINS, AL ;
CROLLA, JA ;
COCKWELL, AE ;
FISHER, AM ;
JACOBS, PA .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (06) :482-486
[3]  
KAJII T, 1992, EUROPEAN SOC HUMAN G, P93
[4]   A NEW MALFORMATION SYNDROME OF LONG PALPEBRAL FISSURES, LARGE EARS, DEPRESSED NASAL TIP, AND SKELETAL ANOMALIES ASSOCIATED WITH POSTNATAL DWARFISM AND MENTAL-RETARDATION [J].
KUROKI, Y ;
SUZUKI, Y ;
CHYO, H ;
HATA, A ;
MATSUI, I .
JOURNAL OF PEDIATRICS, 1981, 99 (04) :570-573
[5]   ECHOCARDIOGRAPHY REVEALS A HIGH-INCIDENCE OF BICUSPID AORTIC-VALVE IN TURNER SYNDROME [J].
MILLER, MJ ;
GEFFNER, ME ;
LIPPE, BM ;
ITAMI, RM ;
KAPLAN, SA ;
DISESSA, TG ;
ISABELJONES, JB ;
FRIEDMAN, WF .
JOURNAL OF PEDIATRICS, 1983, 102 (01) :47-50
[6]   KABUKI MAKE-UP (NIIKAWA-KUROKI) SYNDROME - A STUDY OF 62 PATIENTS [J].
NIIKAWA, N ;
KUROKI, Y ;
KAJII, T ;
MATSUURA, N ;
ISHIKIRIYAMA, S ;
TONOKI, H ;
ISHIKAWA, N ;
YAMADA, Y ;
FUJITA, M ;
UMEMOTO, H ;
IWAMA, Y ;
KONDOH, I ;
FUKUSHIMA, Y ;
NAKO, Y ;
MATSUI, I ;
URAKAMI, T ;
ARITAKI, S ;
HARA, M ;
SUZUKI, Y ;
CHYO, H ;
SUGIO, Y ;
HASEGAWA, T ;
YAMANAKA, T ;
TSUKINO, R ;
YOSHIDA, A ;
NOMOTO, N ;
KAWAHITO, S ;
AIHARA, R ;
TOYOTA, S ;
LESHIMA, A ;
FUNAKI, H ;
ISHITOBI, K ;
OGURA, S ;
FURUMAE, T ;
YOSHINO, M ;
TSUJI, Y ;
KONDOH, T ;
MATSUMOTO, T ;
ABE, K ;
HARADA, N ;
MIIKE, T ;
OHDO, S ;
NARITOMI, K ;
ABUSHWEREB, AK ;
BRAUN, OH ;
SCHMID, E .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (03) :565-589
[7]   KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY [J].
NIIKAWA, N ;
MATSUURA, N ;
FUKUSHIMA, Y ;
OHSAWA, T ;
KAJII, T .
JOURNAL OF PEDIATRICS, 1981, 99 (04) :565-569
[8]   KABUKI MAKE-UP SYNDROME (NIIKAWA-KUROKI SYNDROME) ASSOCIATED WITH CONGENITAL HEART-DISEASE [J].
OHDO, S ;
MADOKORO, H ;
SONODA, T ;
NISHIGUCHI, T ;
KAWAGUCHI, K ;
HAYAKAWA, K .
JOURNAL OF MEDICAL GENETICS, 1985, 22 (02) :126-127
[9]  
Philip N, 1992, Clin Dysmorphol, V1, P63
[10]   VELO-CARDIO-FACIAL SYNDROME ASSOCIATED WITH CHROMOSOME-22 DELETIONS ENCOMPASSING THE DIGEORGE LOCUS [J].
SCAMBLER, PJ ;
KELLY, D ;
LINDSAY, E ;
WILLIAMSON, R ;
GOLDBERG, R ;
SHPRINTZEN, R ;
WILSON, DI ;
GOODSHIP, JA ;
CROSS, IE ;
BURN, J .
LANCET, 1992, 339 (8802) :1138-1139