Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome

Am J Med Genet. 1999 Jun 25;89(2):111-5. doi: 10.1002/(sici)1096-8628(19990625)89:2<111::aid-ajmg9>;2-g.


Wolf-Hirschhorn syndrome (WHS) is a well-known malformation syndrome due to microdeletion of the short arm of chromosome 4 (4p-). Almost 120 cases have been reported so far, yet there is still limited information on its natural history. It is generally thought that these children have severe developmental disabilities and tend to be mere survivors devoid of personality. It is evident to us [Battaglia et al., 1999a, 1999b], however, that individuals with WHS are capable of greater psychomotor development than previously suggested [Guthrie et al., 1971]. Thus, it is even more important to establish guidelines for health supervision and anticipatory guidance of such patients. This would help professionals and families in developing the most appropriate individualized plan for each child, in order to allow the maximum achievement possible. In the present article we propose guidelines for health supervision and anticipatory guidance of individuals with WHS. These guidelines derive from our experience with the natural history of several children, adolescents, and adults with WHS, gained through the literature, personal observation, and contacts with the national support groups in North America and Italy.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / physiopathology
  • Chromosome Aberrations* / diagnosis
  • Chromosome Aberrations* / genetics
  • Chromosome Aberrations* / physiopathology
  • Chromosome Deletion
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 4 / genetics*
  • Deafness / physiopathology
  • Delivery of Health Care*
  • Developmental Disabilities / physiopathology
  • Eating
  • Humans
  • Kidney Diseases / physiopathology
  • Practice Guidelines as Topic
  • Seizures / physiopathology
  • Syndrome