A case of Noonan's syndrome with numerous cardiac abnormalities.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
A S AtaerginM A Gündogan

Abstract

To report a case of Noonan's syndrome in a patient with numerous cardiac abnormalities. We present a case report of a patient with Noonan's syndrome, including clinical, laboratory, and radiologic findings, and discuss the characteristic features of this condition. A 19-year-old male patient had most of the typical clinical findings of Noonan's syndrome-dysmorphic face, short stature, ear abnormalities, cryptorchidism, webbed neck, and high palate. In addition, mitral valve prolapse, secondary mitral insufficiency, left ventricular hypertrophy, and secondary tricuspid insufficiency were diagnosed. Although some cardiac abnormalities have been reported in patients with this syndrome, a case with numerous cardiac abnormalities has not been described previously. Noonan's syndrome is a rare disorder with characteristic clinical features and cardiac abnormalities. Although previously reported cases have described cardiovascular anomalies, on review of the literature we found no other case with numerous cardiac abnormalities.

References

Feb 1, 1992·Archives of Disease in Childhood·M SharlandM A Paton
Oct 12, 1991·Lancet·D Damian, M H Tattersall
Jul 1, 1989·British Heart Journal·A TinkerJ Schofield
Dec 1, 1988·European Journal of Pediatrics·M B RankeJ R Bierich
Sep 1, 1986·Clinical Genetics·D R WittJ E Allanson
Jul 1, 1985·American Journal of Medical Genetics·J E AllansonR D Witt
Nov 1, 1994·American Journal of Medical Genetics·I van der BurgtE Mariman
Jun 1, 1994·British Heart Journal·R A CookeP V Curry
Oct 1, 1993·Acta Paediatrica·B C Thomas, R Stanhope
Sep 1, 1993·Angiology·J SchwartzJ Madjar
Jan 1, 1993·Pediatric Radiology·C D GeorgeE J Adam

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