Akhtar Naureen
Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore.
J Coll Physicians Surg Pak. 2008 Apr;18(4):254-6.
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.
染色体异常是智力发育迟缓及先天性畸形的重要原因。我们报告一例罕见的染色体疾病——沃尔夫-赫希霍恩综合征,该病由4号染色体短臂缺失所致。其特征为具有典型的面部外观、癫痫发作、小头畸形、中线闭合缺陷以及生长发育和智力迟缓。