Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies.
This is a report on a father and his two children with an apparent autosomal dominant condition characterized by craniofacial anomalies, coarctation of the aorta, hypertrophic cardiomyopathy, and other structural heart abnormalities with normal psychomotor development. Some clinical features are reminiscent of Noonan syndrome. Alternatively, this family may have a previously undescribed genetic condition. The family history is suggestive of a new autosomal dominant mutation in the father.
Lemire
Edmond G
EG
Division of Medical Genetics, Department of Pediatrics, Royal University Hospital and University of Saskatchewan, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada. lemiree@sdh.sk.ca
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001017:Aortic Coarctation / Q000235:genetics* / Q000503:physiopathology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009634:Noonan Syndrome / Q000235:genetics* / Q000503:physiopathology