| Literature DB >> 10649793 |
A Battaglia1, J C Carey, D H Viskochil, P Cederholm, J M Opitz.
Abstract
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.Entities:
Mesh:
Year: 2000 PMID: 10649793 DOI: 10.1097/00019605-200009010-00005
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816