The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: A case report

被引:16
作者
Aurora, P
Wallis, CE
Winter, RM
机构
[1] GREAT ORMOND ST HOSP CHILDREN,RESP UNIT,PORTEX ANAESTHESIA INTENS THERAPY & RESP MED UNIT,LONDON WC1N 3JH,ENGLAND
[2] INST CHILD HLTH,MOTHERCARE UNIT CLIN GENET,LONDON WC1N 1EH,ENGLAND
关键词
Jarcho-Levin syndrome; spondylothoracic dysplasia; costovertebral dysplasia; congenital heart disease;
D O I
10.1097/00019605-199604000-00009
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
boy with the characteristic features of the Jarcho-Levin syndrome (spondylothoracic dysplasia, costovertebral dysplasia) and a complex congenital heart defect is reported.
引用
收藏
页码:165 / 169
页数:5
相关论文
共 14 条
[11]   OCCIPITO-FACIAL-CERVICO-THORACIC-ABDOMINO-DIGITAL DYSPLASIA - JARCHO-LEVIN SYNDROME OF VERTEBRAL ANOMALIES - REPORT OF 6 CASES AND REVIEW OF LITERATURE [J].
PEREZCOMAS, A ;
GARCIACA.JM .
JOURNAL OF PEDIATRICS, 1974, 85 (03) :388-391
[12]   NONSKELETAL MALFORMATIONS IN ONE OF 3 SIBLINGS WITH JARCHO-LEVIN SYNDROME OF VERTEBRAL ANOMALIES [J].
POOR, MA ;
ALBERTI, O ;
GRISCOM, NT ;
DRISCOLL, SG ;
HOLMES, LB .
JOURNAL OF PEDIATRICS, 1983, 103 (02) :270-272
[13]  
SCHULMAN M, 1993, J MED GENET, V30, P875
[14]   CONGENITAL HEART-DISEASE IN SPONDYLOTHORACIC DYSOSTOSIS - 2 FAMILIAL CASES [J].
SIMPSON, JM ;
COOK, A ;
FAGG, NLK ;
MACLACHLAN, NA ;
SHARLAND, GK .
JOURNAL OF MEDICAL GENETICS, 1995, 32 (08) :633-635