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Adv Pediatr. 2001;48:75-113.

Wolf-Hirschhorn (4p-) syndrome.

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  • 1University of Pisa Medical School, and Stella Maris Clinical Research Institute, Italy.


Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of chromosome 4 (4p-). In spite of more than 100 reported cases, information on its natural history remained very limited until recently. It was generally thought that these children had severe developmental disabilities and tended to be mere survivors devoid of personality. However, it is now evident that individuals with WHS are capable of more acquisition of developmental milestones than previously suggested. It is therefore very important to have guidelines for health supervision and anticipatory guidance of such patients. Although thought to affect 1 per 50,000 births, we believe that the syndrome is more common because of the many syndromes with which it is still misdiagnosed, and because only 58% of cases can be recognized on regular G-banding. The following discussion outlines the historical evolution of our recognition of the several complex aspects of this syndrome, from the very early description to the latest knowledge on clinical and cytogenetic/molecular genetic aspects. Its purpose is to draw the attention of professionals (particularly pediatricians and family practitioners) to a clinical disorder that probably affects many more individuals than previously thought. Accurate identification of such patients can lead to the organization of the most appropriate laboratory testing, to the prediction of the prognosis with relative certainty, to the development of the most appropriate health maintenance and educational plans, and to referral of the patient and the family to support groups.

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