Abstract:
Chromosomal abnormalities are important cause of mental retardation and congenital anomalies. We report a case of a rare chromosomal disorder, Wolf-Hirschhorn syndrome, caused by deletion of short arm of chromosome 4. It was characterized by well-described facial appearance, seizures, microcephaly and midline closure defects along with growth and mental retardation.
Page(s):
254-256
DOI:
DOI not available
Published:
Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 18, Issue: 4, Year: 2008