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Improved Turnaround Times | Median time to first decision: 12 days

Research ArticlePediatric Neuroimaging
Open Access

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

C.M. de Geus, J.E.H. Bergman, C.M.A. van Ravenswaaij-Arts and L.C. Meiners
American Journal of Neuroradiology September 2018, DOI: https://doi.org/10.3174/ajnr.A5810
C.M. de Geus
aFrom the Departments of Genetics (C.M.d.G., J.E.H.B., C.M.A.v.R.)
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J.E.H. Bergman
aFrom the Departments of Genetics (C.M.d.G., J.E.H.B., C.M.A.v.R.)
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C.M.A. van Ravenswaaij-Arts
aFrom the Departments of Genetics (C.M.d.G., J.E.H.B., C.M.A.v.R.)
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L.C. Meiners
bRadiology (L.C.M.), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
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    Fig 1.

    Clival abnormalities in CHARGE syndrome. A, Sagittal T1 scan of a 4.5-year-old boy without CHARGE syndrome. White lines show the measurement of the Ba-Es and Ba-Xs. B, A 22-month-old boy with CHARGE syndrome (patient 14). He has a hypoplastic sclerotome of the clivus (arrow) with a large Welcher angle. Although the top of the odontoid process of the dens does not extend cranially to the Chamberlain line, there is a slight angulation of the medulla oblongata without impression. C and D, Clival size versus age. White dots show length of the Ba-Es (C) and Ba-Xs (D) of the individual controls; black dots show the same parameters of individual patients with CHARGE syndrome.

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    Fig 2.

    Platybasia in patients with CHARGE syndrome. A, Sagittal T1 scan of a 4.5-year-old boy without CHARGE syndrome. The Welcher line is shown in white. B, A 22-month-old boy with CHARGE syndrome (patient 14). Note the large Welcher angle on the midsagittal T1 scan. C, Welcher angle versus age. White dots show the Welcher angle of the individual controls. Black dots show the Welcher angles of individual patients with CHARGE syndrome.

Tables

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    Table 1:

    Characteristics for 23 patients with CHARGE syndrome in our case series

    Characteristics
    Median age (range)20 Mo (3 days to 16 yr)
    Males15
    Females8
    Criteria of Blake et al5 satisfieda
        Typical CHARGE syndrome12
        Negative8
        Missing data3
    Criteria of Verloes6 satisfieda
        Typical CHARGE syndrome12
        Partial CHARGE syndrome0
        Atypical CHARGE syndrome5
        Negative0
        Missing data6
    Criteria of Hale et al7 criteria satisfieda23
    Mutation type (n = 23)b
        Truncating (nonsense, frameshift, deletion)17
        Nontruncating (missense)2
        Splice site4
    • ↵a See On-line Table 1.

    • ↵b Truncating mutations (nonsense or frameshift) lead to a decrease in CHD7 protein. Nontruncating (missense) mutations lead to production of an altered CHD7 protein, which may have residual function. Splice site mutations may have truncating or nontruncating effects.

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    Table 2:

    Correlations between clivus size and clinical parameters

    VariableSize of ClivusP Value
    Normal<2.5 SDs Compared with Controls
    Truncating mutation (total n = 19)a
        +512.12
        −20
    Presence of choanal atresia
        +14.33
        −810
    Presence of coloboma (total n = 22)b
        +48.36
        −55
    Presence of cleft (total n = 22)b
        +32.61
        −611
    Verloes6 criteria satisfiedc
        +481.00
        −23
    Blake et al5 criteria satisfiedc
        +351.00
        −48
    • Note:—+ indicates yes; −, no.

    • ↵a Four patients had a splice site mutation and could not be classified as either truncating or nontruncating.

    • ↵b For 1 patient, no data regarding presence of coloboma were available. For 1 patient, no information regarding cleft lip/palate was available.

    • ↵c See also On-line Table 1.

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Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study
C.M. de Geus, J.E.H. Bergman, C.M.A. van Ravenswaaij-Arts, L.C. Meiners
American Journal of Neuroradiology Sep 2018, DOI: 10.3174/ajnr.A5810
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Cite this article
C.M. de Geus, J.E.H. Bergman, C.M.A. van Ravenswaaij-Arts, L.C. Meiners
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study
American Journal of Neuroradiology Sep 2018, DOI: 10.3174/ajnr.A5810

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