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

Citation
A. Battaglia et al., Wolf-Hirschhorn syndrome (WHS): a history in pictures, CLIN DYSMOR, 9(1), 2000, pp. 25-30
Citations number
9
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
9
Issue
1
Year of publication
2000
Pages
25 - 30
Database
ISI
SICI code
0962-8827(200001)9:1<25:WS(AHI>2.0.ZU;2-B
Abstract
The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, du e to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems, However, due to the difficulty of detect ing very small deletions by standard cytogenetics, diagnosis can be sometim es very difficult, particularly in older patients. In this paper we show th e changes, occurring over time, in facial appearance of affected individual s, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential. Clin Dysmorphol 9:25-30 (C) 2000 Lippincott Willi ams & Wilkins.