Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases

Agatino Battaglia, John C. Carey, Peeches Cederholm, David H. Viskochil, Arthur R. Brothman, Cinzia Galasso

Research output: Contribution to journalArticle

127 Citations (Scopus)

Abstract

Wolf-Hirschhorn syndrome (WHS) is a well-known chromosomal disorder attributable to partial deletion of the short arm of chromosome 4 (4p-). Although about 120 cases have been reported so far, there is still very little data on its natural history. Information given to parents at the time of diagnosis tends to be skewed to the extreme negative. To help delineate more thoroughly the natural history of WHS, and to obtain better information to answer parents' questions in a clinical setting, we evaluated 15 patients (12 females, 3 males) in three centers with the 4p- syndrome. Four of the cases had a follow-up spanning 16 years. Thirteen cases were detected by standard cytogenetics (regular G-banding 10, high-resolution banding 3), while the remaining 2 required fluorescence in situ hybridization. A total of 5/15 (33.3%) had heart lesions; 7/15 (46.6%) had oral facial clefts; 13/15 (86.6%) had a seizure disorder, that tended to disappear with age; and 100% had severe/profound developmental retardation. One Italian patient had sensorineural deafness and 1 Utah patient had a right split hand defect. Of note, 2 Utah patients were able to walk with support (at 4 and 12 years of age, respectively), whereas 3 Italian patients and 1 Utah patient were able to walk unassisted (at 4, 5, 5 years 9 months, and 7 years of age, respectively). Two of the 3 Italian patients also achieved sphincter control (by day). The 8 patients receiving serial electroencephalogram studies showed fairly distinctive abnormalities, usually outlasting seizures. A slow, but constant progress in development was observed in all cases, during the follow-up period. In conclusion, the combined cases of the three centers represent considerable experience, providing new information on several aspects of this important deletion syndrome.

Original languageEnglish
Pages (from-to)830-836
Number of pages7
JournalPediatrics
Volume103
Issue number4 I
DOIs
Publication statusPublished - 1999

Fingerprint

Wolf-Hirschhorn Syndrome
Parents
Chromosome Disorders
Deafness
Natural History
Fluorescence In Situ Hybridization
Cytogenetics
Electroencephalography
Epilepsy
Seizures
Hand

Keywords

  • Del(4p) syndrome
  • Natural history
  • Wolf-Hirschhorn syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Battaglia, A., Carey, J. C., Cederholm, P., Viskochil, D. H., Brothman, A. R., & Galasso, C. (1999). Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics, 103(4 I), 830-836. https://doi.org/10.1542/peds.103.4.830

Natural history of Wolf-Hirschhorn syndrome : Experience with 15 cases. / Battaglia, Agatino; Carey, John C.; Cederholm, Peeches; Viskochil, David H.; Brothman, Arthur R.; Galasso, Cinzia.

In: Pediatrics, Vol. 103, No. 4 I, 1999, p. 830-836.

Research output: Contribution to journalArticle

Battaglia, A, Carey, JC, Cederholm, P, Viskochil, DH, Brothman, AR & Galasso, C 1999, 'Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases', Pediatrics, vol. 103, no. 4 I, pp. 830-836. https://doi.org/10.1542/peds.103.4.830
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics. 1999;103(4 I):830-836. https://doi.org/10.1542/peds.103.4.830
Battaglia, Agatino ; Carey, John C. ; Cederholm, Peeches ; Viskochil, David H. ; Brothman, Arthur R. ; Galasso, Cinzia. / Natural history of Wolf-Hirschhorn syndrome : Experience with 15 cases. In: Pediatrics. 1999 ; Vol. 103, No. 4 I. pp. 830-836.
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abstract = "Wolf-Hirschhorn syndrome (WHS) is a well-known chromosomal disorder attributable to partial deletion of the short arm of chromosome 4 (4p-). Although about 120 cases have been reported so far, there is still very little data on its natural history. Information given to parents at the time of diagnosis tends to be skewed to the extreme negative. To help delineate more thoroughly the natural history of WHS, and to obtain better information to answer parents' questions in a clinical setting, we evaluated 15 patients (12 females, 3 males) in three centers with the 4p- syndrome. Four of the cases had a follow-up spanning 16 years. Thirteen cases were detected by standard cytogenetics (regular G-banding 10, high-resolution banding 3), while the remaining 2 required fluorescence in situ hybridization. A total of 5/15 (33.3{\%}) had heart lesions; 7/15 (46.6{\%}) had oral facial clefts; 13/15 (86.6{\%}) had a seizure disorder, that tended to disappear with age; and 100{\%} had severe/profound developmental retardation. One Italian patient had sensorineural deafness and 1 Utah patient had a right split hand defect. Of note, 2 Utah patients were able to walk with support (at 4 and 12 years of age, respectively), whereas 3 Italian patients and 1 Utah patient were able to walk unassisted (at 4, 5, 5 years 9 months, and 7 years of age, respectively). Two of the 3 Italian patients also achieved sphincter control (by day). The 8 patients receiving serial electroencephalogram studies showed fairly distinctive abnormalities, usually outlasting seizures. A slow, but constant progress in development was observed in all cases, during the follow-up period. In conclusion, the combined cases of the three centers represent considerable experience, providing new information on several aspects of this important deletion syndrome.",
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