Wolf-Hirschhorn syndrome (WHS): a history in pictures

被引:18
作者
Battaglia, A
Carey, JC
Viskochil, DH
Cederholm, P
Opitz, JM
机构
[1] Univ Pisa, Inst Child Neurol & Psychiat, Stella Maris Sci Res Inst, I-56018 Pisa, Italy
[2] Univ Utah, Hlth Sci Ctr, Dept Pediat, Div Med Genet, Salt Lake City, UT USA
关键词
Wolf-Hirschhorn syndrome; deletion 4p syndrome; clinical phenotype; changes with age;
D O I
10.1097/00019605-200009010-00005
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, due to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems, However, due to the difficulty of detecting very small deletions by standard cytogenetics, diagnosis can be sometimes very difficult, particularly in older patients. In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential. Clin Dysmorphol 9:25-30 (C) 2000 Lippincott Williams & Wilkins.
引用
收藏
页码:25 / 30
页数:6
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