[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 excerpt

INTRODUCTION: 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. AIMS: To describe the characteristics of a series of children with WHS, including the mean amount of time spent on reaching the diagnosis, and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Atrophy
• Share to Chromosomes, Human, Pair 4