title: Clinical features in adult patient with Wolf-Hirschhorn syndrome.
abstract: The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and ophthalmologic malformations. Pathogenesis of WHS is multigenic and many factors are involved in prediction of prognosis such as extent of deletion, the occurrence of severe chromosome anomalies, the severe of seizures, the existence of serious internal, mainly cardiac, abnormalities and the degree of mental retardation. The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and children. Avoid long-term complications and provide rehabilitation programs and genetic counseling may be essential in these patients.
authors.affiliation: Cardiology Service, Insular-Materno Infantil University Hospital, Complejo Hospitalario Universitario Insular-Materno Infantil, Avd. Marítima del Sur s/n, 35016 Las Palmas de Gran Canaria, Spain. Electronic address: efrencardio@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Martínez-Quintana
authors.affiliation: Ophtalmology Service, Dr. Negrín University Hospital of Gran Canaria, Las Palmas de Gran Canaria, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Rodríguez-González
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics / Q000648:ultrastructure; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics / Q000648:ultrastructure; D004310:Double Outlet Right Ventricle / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics; D019066:Facies; D005260:Female; D006215:Hallux Valgus / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007738:Kyphosis / Q000235:genetics; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics / Q000473:pathology*
keywords: Cardiac; Cardiaque; Genetic; Génétique; Pitt-Rogers-Danks syndrome; Rehabilitation; Rééducation; Syndrome de Pitt-Rogers-Danks; Syndrome de Wolf-Hirschhorn; Wolf-Hirschhorn syndrome