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At least 163 records · Page 9Linked to original sources
PubMed1999

Supravalvular aortic stenosis, Williams syndrome and sudden death. A case report.

Supravalvular aortic stenosis (SVAS) is an uncommon but well characterized congenital narrowing of the ascending aorta above the level of the coronary arteries. It can be a familial disorder, can occur sporadically, or associated with Williams syndrome (WS) which is a neurodevelopmental disorder affecting connective tissue and the central nervous system. Sudden death is a well-known complication of non-syndromic SVAS but few cases have been reported associated with WS. We present a case of sudden death in a woman with the diagnosis of SVAS and WS since the age of 3 years who refused surgical correction and died at the age of 27 years. At autopsy, the aorta and pulmonary trunk were narrowed and the walls showed peculiar microscopical characteristics. In the cardiac conduction system the His bundle was small and intramyocardial. The incidence, pathology, pathogenesis and prognosis of both conditions (SVAS and WS) are reviewed.

Adult↗
PubMed1997

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Both Williams syndrome and isolated supravalvular aortic stenosis (SVAS) are caused by mutations at the elastin locus. Deletion demonstrable by FISH is the hallmark of Williams syndrome, whereas the mutations reported so far in SVAS have been more subtle. FISH positive elastin hemizygosity has not been reported in isolated SVAS. This report records our experience of FISH for elastin deletion in isolated SVAS and specifically reports a patient with non-Williams related SVAS, positive for the elastin deletion by FISH.

Adolescent↗
PubMed1996

A longitudinal study of cognitive abilities and educational attainment in Williams syndrome.

The paper reports on changes in IQ scores and in reading, spelling and arithmetic skills over time in 23 young adults with Williams syndrome. They were first assessed in their early to mid-teens and followed up 8 to 9 years later, at an average age of 21 years 9 months. Cognitive assessments indicated increases in Full Scale, Verbal and Performance IQ scores. These increases allow us to conclude that in the case of Williams syndrome (unlike some other conditions) there does not appear to be a decline in the rate of cognitive development over time. Comparisons of Reading, Spelling and Arithmetic scores attained at first and second testing periods revealed only modest increases in reading accuracy and spelling scores, a slight decline in reading comprehension scores, and little change in arithmetic test scores. Differences in the tests used at the two assessment periods do not allow for definitive conclusions to be drawn, but the findings suggest that individuals with Williams syndrome make little progress in their educational skills beyond their early teenage years.

Adolescent↗
PubMed1993

[The British Surgeon William Wittman's impression of Istanbul and its neighborhood's health problems surrounding at the beginning of 19th century].

British surgeon William Wittman visited the Ottoman Empire between the years 1799 and 1802 as a member of the British Military Mission. The British Military Mission came to the Ottoman Territory in accordance with the alliance which was enacted between the Ottoman and British Empires after Napoleons' invasion of Egypt. William Wittman spent a year in Istanbul. Later on he went to Jaffa with the British Military Mission to join the Ottoman army. They traveled through El-Arish and Belbeis to Cairo with the army. During this time Wittman recorded the health problems and the diseases which were prevalent both in the Ottoman army and the British Military Mission. He also recorded the cases which he tried to cure. William Wittman appended three medical reports to his travel report. This article is on William Wittman's biography and his impressions of the Levant Chiflick in Istanbul; health problems, and diseases prevalent in Istanbul and its neighborhood during the period.

Expeditions↗
PubMed1990

Williams syndrome in twins.

Two sets of identical twins with Williams syndrome have been reported previously. We report on 2 additional sets of presumed identical twins with Williams syndrome. All 4 patients had the typical Williams syndrome facial appearance, growth deficiency, and developmental delay. None of the patients had supravalvular aortic stenoses; however, all were diagnosed as having probable distal pulmonary artery stenosis. In the set of twins in which serum calcium was measured, one twin had an elevated serum ionized calcium level. These 2 sets of twins further document the occurrence of Williams syndrome in identical twins. To our knowledge, there are no reported cases of concordance in dizygotic twins. This adds further support to the likelihood that Williams syndrome is a genetic disorder.

Abnormalities, Multiple↗
PubMed2004

New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome.

The authors report a female presenting with congenital heart defects, liver hemangiomas, and facial dysmorphisms admitted to hospital at 3 months of age because of feeding difficulties and poor growth. She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations. In spite of normal neonatal screening we performed serum levels of thyroid hormones. Thyrotropin level was very high (>50 microU/ml; normal value 0.2-4 microU/ml), while serum free T(3) (FT3) and free T(4) (FT4) levels were normal (FT3 3.6 pg/ml, normal value 2.8-5.6 pg/ml; FT4 11.6 pg/ml, normal value 6.6-14 pg/ml); antithyroid autoantibodies were absent. Thyroid scintigraphy with sodium 99m Tc pertechnetate showed a small ectopic thyroid located in sublingual position, so treatment with L-thyroxine 37.5 microg/24 hr was started with rapid improvement of the clinical picture. At 17 months of age the patient developed the complete characteristic phenotype of Williams syndrome (WS); the clinical diagnosis was proven by fluorescent in situ hybridization (FISH) analysis which showed hemizygous deletion of the elastin gene on chromosome 7. Recently a case of thyroid hemiagenesis in a child with WS has been reported; our patient underscores the association of hypothyroidism and WS. Moreover, our case shows that clinical manifestations of hypothyroidism may be present and the treatment may be necessary as it is in isolated congenital hypothyroidism.

Choristoma↗