Wolf-Hirschhorn syndrome - Review of the literature and three case studies

被引:5
作者
Thomson, P [1 ]
机构
[1] Fife Healthcare NHS Trust, Dunfermline, Fife, Scotland
来源
JOURNAL OF THE AMERICAN PODIATRIC MEDICAL ASSOCIATION | 1998年 / 88卷 / 04期
关键词
D O I
10.7547/87507315-88-4-192
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
Wolf-Hirschhorn syndrome is a rare chromosomal abnormality caused by loss of material from the distal aspect of the short arm of chromosome 4. Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects. Features that may affect the lower limb include lordosis, scoliosis, hypotonia, talipes equinovarus, and lesser-toe anomalies. This article reviews the literature on this rare syndrome and presents three case studies.
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页码:192 / 197
页数:6
相关论文
共 28 条
[1]  
ANVRET M, 1991, HUM GENET, V86, P481
[2]   HUMAN CHROMOSOMAL DELETION . 2 PATIENTS WITH 4P-SYNDROME [J].
ARIAS, D ;
PASSARGE, E ;
ENGLE, MA ;
GERMAN, J .
JOURNAL OF PEDIATRICS, 1970, 76 (01) :82-+
[3]  
CASTROFELIX LP, CLIN GENET, V29, P439
[4]   TRANSLOCATION 4P- SYNDROME - GENERAL REVIEW [J].
CENTERWALL, WR ;
THOMPSON, WP ;
ALLEN, IE ;
FOBES, CD .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1975, 129 (03) :366-370
[5]   INTERSTITIAL DELETION OF DISTAL CHROMOSOME 4P IN A PATIENT WITHOUT CLASSICAL WOLF-HIRSCHHORN SYNDROME [J].
ESTABROOKS, LL ;
RAO, KW ;
KORF, B .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (01) :97-100
[6]   PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME 4P16 BASED ON 4P DELETIONS [J].
ESTABROOKS, LL ;
RAO, KW ;
DRISCOLL, DA ;
CRANDALL, BF ;
DEAN, JCS ;
IKONEN, E ;
KORF, B ;
AYLSWORTH, AS .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (04) :581-586
[7]   MOLECULAR CHARACTERIZATION OF CHROMOSOME 4P DELETIONS RESULTING IN WOLF-HIRSCHHORN SYNDROME [J].
ESTABROOKS, LL ;
LAMB, AN ;
AYLSWORTH, AS ;
CALLANAN, NP ;
RAO, KW .
JOURNAL OF MEDICAL GENETICS, 1994, 31 (02) :103-107
[8]  
FRYNS JP, 1989, ANN GENET-PARIS, V32, P59
[9]  
FUJIMOTO A, 1990, HUM GENET, V84, P296
[10]  
GANDELMAN KY, 1992, AM J HUM GENET, V51, P571