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Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review

R. Blanco-Lago, I. Málaga-Diéguez, J.J. Granizo-Martínez, L. Carrera-García, P. Barruz-Galián, P. Lapunzina, J. Nevado-Blanco, en representación del Grupo Colaborativo para el Estudio del Síndrome de Wolf-Hirschhorn [REV NEUROL 2017;64:393-400] PMID: 28444681 DOI: https://doi.org/10.33588/rn.6409.2016414

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Volumen 64 | Number 09 | Nº of views of the article 23.090 | Nº of PDF downloads 544 | Article publication date 01/05/2017

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ABSTRACT

INTRODUCTION Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS. To establish a register of patients with WHS in Spain, describe their characteristics, determine the prevalence of epilepsy, estimate the degree of psychomotor retardation and perform a review of the literature in order to compare these data with those published to date.

PATIENTS AND METHODS In collaboration with the Spanish Wolf-Hirschhorn Syndrome Association, we contacted the families affected and collected data via forms endorsed by medical reports.

RESULTS The characteristics of 51 patients are described. Psychomotor retardation was considered the most severe in 37% of cases. Of the total sample, 88% presented epilepsy, and nearly all of them showed growth problems. The mean size of the deletion was 8.4 Mb, and the phenotype is displayed in photographs. Other clinical features reported were sensory alterations and nephrourological and cardiological pathologies.

CONCLUSIONS This study reports on the second largest cohort of patients with WHS with a genetic characterisation published to date. Many of the characteristics coincide with those described previously, with several exceptions, such as the degree of psychomotor retardation, which appears to be lower in the sample studied here. Keywords4p deletion Chromosome abnormality Contiguous gene syndrome Epilepsy Intrauterine growth restriction Psychomotor retardation Status epilepticus Wolf-Hirschhorn syndrome CategoriesEpilepsias y síndromes epilépticos

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Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review

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