Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family

被引:2
作者
Bautista, DB
Kahlstrom, EJ
Gozal, D
机构
[1] TULANE UNIV,SCH MED,DEPT PEDIAT,SECT PEDIAT PULM,NEW ORLEANS,LA 70112
[2] UNIV SO CALIF,SCH MED,DEPT PEDIAT,CHILDRENS HOSP LOS ANGELES,LOS ANGELES,CA 90033
关键词
D O I
10.1097/00007611-199712000-00014
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We describe a rare occurrence of two consecutive cases of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a nonconsanguineous Hispanic family. Serial measurements of pulmonary function and energy expenditure were useful in one of these infants for assessment of the evolution and severity of restriction of pulmonary function and the determination of timely therapeutic intervention.
引用
收藏
页码:1234 / 1237
页数:4
相关论文
共 17 条
[1]   SPONDYLOCOSTAL SPONDYLOTHORACIC DYSOSTOSIS - THE CLINICAL BASIS FOR PROGNOSTICATING AND GENETIC-COUNSELING [J].
AYME, S ;
PREUS, M .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (04) :599-606
[2]   CHEST RECONSTRUCTION IN THORACIC DYSTROPHY [J].
BARNES, ND ;
HULL, D ;
MILNER, AD ;
WATERSTON, DJ .
ARCHIVES OF DISEASE IN CHILDHOOD, 1971, 46 (250) :833-+
[3]  
Cassidy SB, 1984, P GREENWOOD GENET CT, V3, P92
[4]   METABOLIC-RATE AT REST AND DURING SLEEP IN A THERMONEUTRAL ENVIRONMENT [J].
CHILDS, C .
ARCHIVES OF DISEASE IN CHILDHOOD, 1993, 68 (05) :658-661
[5]   RESPIRATORY COMPLICATIONS IN CHILDREN WITH SPONDYLOEPIPHYSEAL DYSPLASIA-CONGENITA [J].
HARDING, CO ;
GREEN, CG ;
PERLOFF, WH ;
PAULI, RM .
PEDIATRIC PULMONOLOGY, 1990, 9 (01) :49-54
[6]   SPONDYLOTHORACIC DYSPLASIA - A CASE-REPORT [J].
HEILBRONNER, DM ;
RENSHAW, TS .
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1984, 66A (02) :302-303
[7]   GROWTH-CURVES FOR HEIGHT FOR DIASTROPHIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, AND PSEUDO-ACHONDROPLASIA [J].
HORTON, WA ;
HALL, JG ;
SCOTT, CI ;
PYERITZ, RE ;
RIMOIN, DL .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1982, 136 (04) :316-319
[8]   CHILDREN WITH SMALL CHESTS [J].
HULL, D ;
BARNES, ND .
ARCHIVES OF DISEASE IN CHILDHOOD, 1972, 47 (251) :12-&
[9]  
JARCHO J, 1938, B JOHNS HOPKINS HOSP, V62, P216
[10]  
MCKUSICK VA, 1990, MENDELIAN INHERITANC, P1525