Introduction This information was developed to assist teachers who have a child with Williams syndrome in their class at school. The most important sources of information about any child are, of course, the child himself, and the child's family. Parents, brothers and sisters, and environmental factors strongly influence the development and personality of all children.
Jae Hyeong ParkM. Department of Radiology Address reprint requests: Young Woo Lee, M. Abstract An year-old male was admitted to Seoul National University Hospital for the evaluation of fever and chill on February 3, His face was characterized by abnormalities of dental development, a broad overhanging upper lip, high arched palate and gum hypertrophy.
He also showed mental retardation. Cardiac catheterization with selective cineangiocardiography demonstrated a supravalvular aortic narrowing, grade 2 aortic insufficiency, and moderately dilated proximal coronary arteries with normal distribution without an intraluminal narrowing. There was a systolic pressure gradient 55mmHg between the aortic root and ascending aorta distal to a stenotic segment.
MRI showed a supravalvular aortic stenosis. Vegetation was not found on echocardiograpghy. He was treated with Na-penicillin and gentamicin for 28 days. Recently, we met an year-old male with Williams syndrome and infective endocarditis presenting as fever and chill.
Although several cases of Williams syndrome have been reported in Korea, an adult patient with Williams syndrome, especially associated with infective endocarditis, has not been reported. This paper presents a case report of adult Williams syndrome with infective endocarditis.
He was relatively well until 20 days prior to admission when intermittent fever and chill developed he had his teeth extracted. For 3 days prior to admission, he also suffered from abdominal pain and frequent loose stool. He was admitted through the emergency room for further evaluation.
His past history was not contributory except for frequent episodes of upper respiratory infections shince childhood. In all the family members, including parents and 2 brothers, evidence of congenital anomaly or mental retardation was not found.
The patient was a high school student and his parents said he was poor in academic achievement. On physical examination he had a peculiar facial appearance.
His body temperature was His face was characterized by abnormalites of dental development, a broad overhanging upper lip, high arched palate and gum hypertrophy Fig. Ocular examination showed strabismus and epicanthic folds were absent.Feb 21, · Introduction.
Williams syndrome is a multisystemic rare genomic disorder that was first described, in , by a cardiologist from New Zealand, Dr.
J.C.P. Williams. This syndrome is also called as Williams-Beuren syndrome after Dr. General Discussion. Meige syndrome is a rare neurological movement disorder characterized by involuntary and often forceful contractions of the muscles of the jaw and tongue (oromandibular dystonia) and involuntary muscle spasms and contractions of the muscles around the eyes (blepharospasm).
Williams syndrome is characterized by the triad: supravalvular aortic stenosis, mental retardation and elfin facies. doctor Williams first reported this syndrome in three females and one male-aged 7, .
Jane Kepics MS PT CLT-LANA University of Scranton Final Case Report Evidence Based Medicine December 10, Jane Kepics MS PT CLT-LANA is a graduate of the Dr. Vodder School.
Children with Down syndrome have multiple malformations and mental impairment because of the presence of extra genetic material from chromosome Williams syndrome is a genetic condition that causes various developmental and health problems such as ADHD, anxiety, phobias, a short nose with a broad tip, full cheeks, and a wide mouth with full lips.
Genetic causes, treatments, and life expectancy information are provided.