Wolf-Hirschhorn syndrome: review of three clinical cases

Abstract

   Wolf–Hirshhorn syndrome is one of the rare but recognizable hereditary syndromes, of which several dozen clinical cases have been described. The article describes three clinical observations of children with Wolff-Hirschhorn syndrome. In two children, the diagnosis was confirmed by high-resolution chromosomal microarray analysis, in one by standard cytogenetic examination. In two cases, the chromosomal imbalance arose de novo. Two children had an isolated 4p deletion (p15.3 and 4p16.3), one had a combination with an 8p23.1-p23.3 microduplication. All patients had common phenotypic features: orbital hypertelorism, dysplastic low-lying auricles, short filter small upper lip. All children had pronounced muscular hypotonia from birth, psychomotor retardation and convulsive syndrome with the need for prescription and individual selection of anticonvulsant therapy. All children were diagnosed with severe protein-energy deficiency, which is difficult to correct due to poor tolerance of artificial mixtures. One patient was diagnosed with enchondroma. Our experience presented in this article allows us to supplement the data on the syndrome and expand the cohort of cases described in the literature.