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Research ArticleBrain
Open Access

Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome

D.P. Wint, J.A. Butman, J.C. Masdeu, A. Meyer-Lindenberg, C.B. Mervis, D. Sarpal, C.A. Morris and K.F. Berman
American Journal of Neuroradiology January 2014, 35 (1) 90-94; DOI: https://doi.org/10.3174/ajnr.A3641
D.P. Wint
aFrom the Section on Integrative Neuroimaging, Clinical Brain Disorders Branch (D.P.W., J.C.M., A.M.-L., D.S., K.F.B.), National Institute of Mental Health
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J.A. Butman
bRadiology and Imaging Sciences, Warren G. Magnuson Clinical Center (J.A.B.), Intramural Research Program, National Institutes of Health, Bethesda, Maryland
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J.C. Masdeu
aFrom the Section on Integrative Neuroimaging, Clinical Brain Disorders Branch (D.P.W., J.C.M., A.M.-L., D.S., K.F.B.), National Institute of Mental Health
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A. Meyer-Lindenberg
aFrom the Section on Integrative Neuroimaging, Clinical Brain Disorders Branch (D.P.W., J.C.M., A.M.-L., D.S., K.F.B.), National Institute of Mental Health
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C.B. Mervis
cNeurodevelopmental Sciences Laboratory (C.B.M.), Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky
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D. Sarpal
aFrom the Section on Integrative Neuroimaging, Clinical Brain Disorders Branch (D.P.W., J.C.M., A.M.-L., D.S., K.F.B.), National Institute of Mental Health
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C.A. Morris
dDepartment of Pediatrics (C.A.M.), University of Nevada School of Medicine, Las Vegas, Nevada.
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K.F. Berman
aFrom the Section on Integrative Neuroimaging, Clinical Brain Disorders Branch (D.P.W., J.C.M., A.M.-L., D.S., K.F.B.), National Institute of Mental Health
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    Figure.

    Anterior cerebral artery configuration in Williams syndrome. MRA from a normally developing person (A) and a participant with Williams syndrome (B) showing elongation of the postcommunicating segment of the anterior cerebral artery in the participant with Williams syndrome.

Tables

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    Table 1:

    Medical findings in participants with Williams syndrome

    ParticipantAge (y)Pulse (bpm)Blood Pressure (mm Hg)Medical HistoryCardiovascular History
    SystolicDiastolic
    1188413090Inguinal herniaHypertension
    218Not availableHypercalcemia, joint limitationSVAS
    318729070Chronic otitis media, hip subluxation, kyphosis, constipationVentricular septal defect, SVPS, prolonged Q-T interval
    4196411080ConstipationNegative
    5226413080Chronic otitis media, scoliosis, rectal prolapse, constipationMitral valve prolapse, hypertension
    622Not availableLeft conductive hearing loss, chronic otitis media, joint limitationSVAS, mitral valve prolapse
    7236412060Inguinal hernia, umbilical hernia, joint impairmentSVAS, SVPS, mitral valve prolapse
    8248013080Chronic otitis media, inguinal hernia, joint impairmentSVAS, peripheral pulmonary stenosis, hypertension
    9297212092HypercalcemiaSVAS
    10307612070Inguinal herniaSVAS, SVPS
    113368165100Constipation, inguinal herniaSVAS, hypertension, renal artery stenosis
    123710011070Diverticulitis, constipationSVAS, carotid bruit
    13446212091Hypercalcemia, kyphosis, chronic abdominal pain, constipationSVAS
    14459613085DiverticulitisNo history of hypertension
    • View popup
    Table 2:

    Prevalence of medical conditions in patients with Williams syndrome

    Medical ConditionStudy
    Wint et ala (n = 14)AAPb (n = 315)Cherniske et alc (n = 20)
    n%%%
    Cardiovascular12868070
        SVAS9647565
        SVPS3212515
        Peripheral pulmonary stenosis1750–
        Mitral valve prolapse321−15
        Other17−35
        Hypertension4295060
    Gastrointestinal1179−75
        Inguinal hernia53640−
        Constipation7504025
        Diverticular disease3213040
        Rectal prolapse1715−
    Neurologic
        Hyperreflexia7507565
        Gait disturbance11796070
        Ataxia1071−−
    Skeletal64350−
        Spinal3216060
        Peripheral5365055
    Chronic otitis42950−
    • Note:—This is a comparison of the prevalence of medical problems in this study's participants with those reported in 2 large studies of Williams syndrome. The number of participants with each condition is listed in the leftmost column.

    • ↵a Present study.

    • ↵b American Academy of Pediatrics, 2001.32

    • ↵c Cherniske et al, 2004.33

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American Journal of Neuroradiology: 35 (1)
American Journal of Neuroradiology
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Cite this article
D.P. Wint, J.A. Butman, J.C. Masdeu, A. Meyer-Lindenberg, C.B. Mervis, D. Sarpal, C.A. Morris, K.F. Berman
Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome
American Journal of Neuroradiology Jan 2014, 35 (1) 90-94; DOI: 10.3174/ajnr.A3641

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Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome
D.P. Wint, J.A. Butman, J.C. Masdeu, A. Meyer-Lindenberg, C.B. Mervis, D. Sarpal, C.A. Morris, K.F. Berman
American Journal of Neuroradiology Jan 2014, 35 (1) 90-94; DOI: 10.3174/ajnr.A3641
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