WILLIAMS SYNDROME: REPORT OF A CASE

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BOZORGMEHR BITA; KARIMINEJAD ROXANA; AFROOZAN FARIBA; KARIMINEJAD ARIANA; KARIMINEJAD MOHAMMAD HASAN

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2010 | Volume:8 | Issue:1 Page(s): 1987-1989

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Title

WILLIAMS SYNDROME: REPORT OF A CASE

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Keywords

WILLIAMS SYNDROMEQ3

MENTAL RETARDATIONQ3

HEART DEFECTSQ3

CONGENITALQ3

EYE ABNORMALITYQ3

Abstract

WILLIAMS SYNDROME is one of MENTAL RETARDATION reasons. Most cases are sporadic but parent to child transmission has been reported. Patients have peculiar face, namely "elfin facies", with periorbital fullness, epicanthal folds, depressed nasal bridge, anteverted nares, and full lips. Cardiac malformation are supravalvular aortic stenosis, pulmonic valvular stenosis, ventricular and arterial septal defect. IQ is ranged from 40 to 80. Deletion within chromosome 7q11.23 is the reason in both sporadic and inherited cases. We are reporting a 3-year old boy, with MENTAL RETARDATION, periorbital fullness, full lips and cardiac malformation. In FISH studies, deletion of short arm of chromosome 7, confirmed the diagnosis of WILLIAMS SYNDROME.

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APA: Copy

BOZORGMEHR, BITA, KARIMINEJAD, ROXANA, AFROOZAN, FARIBA, KARIMINEJAD, ARIANA, & KARIMINEJAD, MOHAMMAD HASAN. (2010). WILLIAMS SYNDROME: REPORT OF A CASE. GENETICS IN THE 3RD MILLENNIUM, 8(1), 1987-1989. SID. https://sid.ir/paper/117215/en

Vancouver: Copy

BOZORGMEHR BITA, KARIMINEJAD ROXANA, AFROOZAN FARIBA, KARIMINEJAD ARIANA, KARIMINEJAD MOHAMMAD HASAN. WILLIAMS SYNDROME: REPORT OF A CASE. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2010;8(1):1987-1989. Available from: https://sid.ir/paper/117215/en

IEEE: Copy

BITA BOZORGMEHR, ROXANA KARIMINEJAD, FARIBA AFROOZAN, ARIANA KARIMINEJAD, and MOHAMMAD HASAN KARIMINEJAD, “WILLIAMS SYNDROME: REPORT OF A CASE,” GENETICS IN THE 3RD MILLENNIUM, vol. 8, no. 1, pp. 1987–1989, 2010, [Online]. Available: https://sid.ir/paper/117215/en

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