title: Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection.
abstract: Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss--a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.
authors.affiliation: Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt drebtesamabdalla@yahoo.com.
authors.forename: Ebtesam Mohamed
authors.initials: EM
authors.lastname: Abdalla
authors.affiliation: Department of Obstetrics and Gynecology, Alexandria Faculty of Medicine, Alexandria, Egypt.
authors.forename: Louay Hassan
authors.initials: LH
authors.lastname: Zayed
mesh_terms: D002675:Child, Preschool; D003638:Deafness / Q000209:etiology*; D004534:Egypt; D019066:Facies; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications* / Q000209:etiology*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000209:etiology*; D008831:Microcephaly / Q000150:complications* / Q000209:etiology*; D020554:Sperm Injections, Intracytoplasmic / Q000009:adverse effects*
keywords:    ZEB2 gene; Hirschsprung disease; Mowat-Wilson syndrome; deafness; intracytoplasmic sperm injection