Supravalvar Aortic Stenosis Associated with Mental and Physical Retardation and a Characteristic Facies
نویسندگان
چکیده
منابع مشابه
Supravalvar aortic stenosis.
one manifestation of the idiopathic hypercalcaemia of infancy syndrome, and the possible aetiologies are discussed. Another presentation of supravalvar aortic stenosis is in the so-called familialform, but there may exist considerable confusion between these two forms, as less than 50 per cent of those without physical stigmata have a positive family history, and the severeform of the idiopathi...
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This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less...
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During 15 years from 1975 to 1990, thirteen cases of supravalvar aortic stenosis were admitted at the pediatrics department of Shahid Rajai Heart Hospital, Tehran. All patients were subjected to cardiac catheterization and a angiocardiography. Patients ranged in age from 3.5 years to 14 years with a mean of 8.7 years. Seventy seven percent of childen were male. Eight cases (61.5%) had Wil...
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Case 1 (IV.1) (see Fig. 1). This girl was born on 21 September 1961. Her mother was 22 and her father 24 years old at the time of birth. The only known unusual event during pregnancy was a large umbilical hernia and an abdominal x-ray was taken at about 30 weeks of gestation. Labour was induced by amniotomy and oxygen was given during labour because of a tetanic contraction. Delivery was uneven...
متن کاملSupravalvar aortic stenosis syndrome with stenosis of all aortic arch branches.
A 9-year-old girl with the supravalvar aortic stenosis syndrome is presented. In addition to the classical features of the syndrome, namely supravalvar aortic stenosis, peripheral pulmonary stenosis, typical facies, and mental retardation, she was also found to have stenosis at the origin of all aortic arch main branches, a hitherto undescribed feature.
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1964
ISSN: 0035-9157
DOI: 10.1177/003591576405700220