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Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease

Published online by Cambridge University Press:  19 August 2008

Dianne N. Abuelo  and
Robert D. Corwin
Dianne N. Abuelo*
Affiliation:
From the Department of Pediatrics, Brown University School ofMedicine, Providence
Robert D. Corwin
Affiliation:
From the Department of Pediatrics, Brown University School ofMedicine, Providence
*
Department of Pediatrics, Division of Genetics, Brown University School of Medicine and Genetic Counseling Center, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903, USA.Tel. 401-444-8361; Fax. 401-444-8845.
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Summary

A syndrome with characteristic facial and skeletal features resulting from a specific deletion of material on the short arm of chromosome 17 was first described by Smith et al in 1982.1 The common findings are brachycephaly, hypoplasia of the middle face, and short broad hands associated with mental retardation. More than 50 cases have been reported, and about one third have congenital heart disease. We report here a patient with atrial and ventricular septal defects together with pulmonary valvar stenosis.

Keywords

Smith-Magenis syndromechromosome 17 deletioncontiguous gene syndromecongenital heart diseasechromosomal disorder
Type
Brief Reports
Information
Cardiology in the Young , Volume 3 , Issue 4 , October 1993 , pp. 441 - 444
Copyright
Copyright © Cambridge University Press 1993

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References

1.Smith, ACMMcGavran, LRobinson, JWaldstein, GMacFarlane, JZonona, JReiss, J, Lahr, MAllen, LMagenis, E. Interstitial deletion of (17)(p11.2P11.2) in nine patients. AmerJ Med Genet 1986; 24: 393–414.CrossRefGoogle Scholar
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