ABSTRACT
Williams syndrome(Williams-Beuren Syndrome, Williams elfin facies syndrome) is a rare syndrome and this is the first case in Korea. We experienced a case of Williams syndrome who was a 11 year old male child. He showed a characteristic facial appearance of this syndrome. A systolic thrill was palpable over the upper sternal borders and in the suprasternal notch. A Grade 3 (on the basis of 6) ejection systolic murmur was heard maximally over the right and left upper sternal borders and radiated over the entire precordium and into the neck. No manifestations of congestive cardiac failure were present. Pectus excavatum and inguinal hernia were observed. he also had mental retardation (IQ=66). Diagnosis was established by angiocardiography, and also aided by EKG and phonocardiography. A brief review of the literatures was done.
Subject(s)
Child , Humans , Male , Angiocardiography , Aortic Stenosis, Supravalvular , Diagnosis , Electrocardiography , Estrogens, Conjugated (USP) , Facies , Funnel Chest , Heart Failure , Hernia, Inguinal , Intellectual Disability , Korea , Neck , Phonocardiography , Systolic Murmurs , Williams SyndromeABSTRACT
Cerebral vascular disease is not infrequent disorder in children. Recently, 66 case of cerebral vascular diseases were investigated at Ped. Depart of Yonsei Medical Center. And obtained following result. 1) Age incidence represented 30% was under 1yr. Of age. 40.9% was under 2 years of age. 2) Of 66 cases 1 schemic vascular disease was 54.5% hemorrage vascular disease was 42.4%. 3) Moya disease was 8(12.1%), cases and cases associated with congenital heart disease was 9 cases(13.6%) and A-V malformatin was 8 cases (12.1%). 4) Over all the survival rate was 80.3% from the accident, in ischemic type the survival rate was 91.7% hemorragic type, 64.3%. 5) The occurrence of sequele in ischemic type was 88%, while hemorragic type 67%.