title: Wolf-Hirschhorn syndrome.
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.
authors.affiliation: Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore. naureenakhtar@hotmail.com
authors.forename: Naureen
authors.initials: N
authors.lastname: Akhtar
mesh_terms: D002675:Child, Preschool; D005183:Failure to Thrive / Q000209:etiology; D006801:Humans; D007621:Karyotyping; D008297:Male; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics