title: [Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process].
abstract: BACKGROUND
  Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by the presence of a peculiar phenotype, delayed growth, delayed psychomotor development and epilepsy.
  
  
  OBJECTIVE
  To describe the characteristics of a series of children with WHS, including the mean amount of time spent on reaching the diagnosis, and to evaluate the opinion of the families about the diagnostic process.
  
  
  METHODS
  The researchers contacted the National WHS Association and, through them, contact was established with 29 families affected by the condition. Information was collected about the clinical features of the child and the opinion about the diagnostic process, and the families were asked to present medical reports that confirmed the information they had given. Once a database of information about the patients had been created, it was submitted to a statistical analysis.
  
  
  RESULTS
  Information was obtained on 27 families. The mean age of the patients is currently 6.94 ± 6.37 years. The mean age of diagnosis was 14.34 months. Delayed intrauterine growth exists in 92.6% of the pregnancies. Epilepsy is present in 92.6% of patients, 44.4% of them in monotherapy. Delayed psychomotor/cognitive development exists in all the patients. Thirty-three per cent of them can walk unaided. The parents rated the treatment offered by physicians with a mean score of 7.25 ± 2.17 and the information they were provided with was given a score of 6.29 ± 2.11.
  
  
  CONCLUSIONS
  No references have been found regarding the mean age of diagnosis for WHS. In our sample there are important variations in this respect, possibly influenced by the phenotype of the case and the doctor's own experience. The clinical characteristics are similar to the ones that were expected. The estimated degree of dependence is high and, in contrast, the quality of the information received by the family is low.
authors.affiliation: Hospital Universitario Infanta Cristina, E-28981 Parla, Espana. rblancol@salud.madrid.org
authors.forename: Raquel
authors.initials: R
authors.lastname: Blanco-Lago
authors.forename: Ignacio
authors.initials: I
authors.lastname: Málaga
authors.forename: Juan José
authors.initials: JJ
authors.lastname: García-Peñas
authors.forename: Adrián
authors.initials: A
authors.lastname: García-Ron
mesh_terms: D000367:Age Factors; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics / Q000648:ultrastructure; D016208:Databases, Factual; D057210:Delayed Diagnosis; D004827:Epilepsy / Q000235:genetics; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D013030:Spain / Q000453:epidemiology; D011795:Surveys and Questionnaires; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics