Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies.
نویسنده
چکیده
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.
منابع مشابه
سندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
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Objective Noonan syndrome (NS) is a common, autosomal dominant, frequently de novo condition due to mutations in RAS-MAPK pathway genes. Presentation is variable, usually in infancy or early childhood, and includes poor postnatal growth, cardiac abnormalities, dysmorphic features and lymphatic dysplasia. The classic cardiac abnormalities are pulmonary valve dysplasia and hypertrophic cardiomyop...
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عنوان ژورنال:
- American journal of medical genetics
دوره 113 3 شماره
صفحات -
تاریخ انتشار 2002