Abstract

AVINA F, JORGE A; A, DANIEL  and  HERNANDEZ, A. Wolf-Hirschhorn Syndrome: distal microdeletion of chromosome 4 short arm. Rev. chil. pediatr. [online]. 2008, vol.79, n.1, pp.50-53. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062008000100007.

Background: Wolf-Hirschhorn Syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. The clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. Objetive: Describe a clinical case of Wolf-Hirschhorn Syndrome, with specific description of craniofacial dysmorphological features. Case report: A female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. Conclusions: The fluorescence in situ hybridization (FISH) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4pl5 confirming the diagnosis. A case of probable de novo mutation with deletion of gene WHSC1 and other linked contiguous genes

Keywords : Wolf-Hirschhorn Syndrome; chromosomal microdeletion.

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