Abstract

DUARTE, Regina Célia Beltrão et al. Wolf-Hirschhorn syndrome (terminal deletion of the short arm of chromosome 4p): Case report. Rev. Para. Med. [online]. 2007, vol.21, n.3, pp.53-57. ISSN 0101-5907.

OBJECTIVE: to report a case of Wolf-Hirschhorn Syndrome or partial deletion of the short arm of one chromosome 4 and present a brief literature review. CASE REPORT: the authors report a case of a seven years-old child presenting the main findings of the syndrome: hypertelorism, big and large nose, prominent glabella, high arched eyebrows, antimongoloid palpebral fissures, bilateral low implantation of auricles, and microcephaly. Echodopplercardiographic study evidenced interatrial communication type ostium secundum without hemodynamic repercussion. Radiological examination showed clubfeet. The patient presents many cognitive deficits, mainly in functions as interaction and learning. Evident motor dysfunctions compromising gait and also muscle atrophy. The child also presented convulsive crises in the first year of life that are currently controlled by the use of anticonvulsants. FINAL CONSIDERATIONS: the incidence of the Wolf-Hirschhorn Syndrome is rare, with only 100 cases reported until 1981. The prognosis is relative, with one third of the patients dying with in the first year, while other children are alive with more than twelve years of age. This case was diagnosed based on clinical, radiological, echodopplercardiographical criteria and confirmed by the karyotype's result 46,XX,del(4)(p15?1).

Keywords : Wolf-Hirschhorn Syndrome; terminal deletion of the short arm of chromosome 4, 4p-; hypertelorism; prominent glabella; IAC.

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