Literature DB >> 10559766

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

A Battaglia1, J C Carey.   

Abstract

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. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10559766     DOI: 10.1002/(sici)1096-8628(19990625)89:2<111::aid-ajmg9>3.0.co;2-g

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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6.  LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.

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