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Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings Cover

Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
By: I Joksic,  G Cuturilo,  A Jurisic,  S Djuricic,  B Peterlin,  M Mijovic,  Orlic N Karadzov,  A Egic and  Z Milovanovic  
Open Access
|Dec 2019

Figures & Tables

Figure 1

Ultrasound image of case 2 showing micrognathia and low-set ears.
Ultrasound image of case 2 showing micrognathia and low-set ears.

Figure 2

Ultrasound image of case 2 showing hypertelorism.
Ultrasound image of case 2 showing hypertelorism.

Figure 3

Ultrasound image of case 2 showing spinal dysraphism.
Ultrasound image of case 2 showing spinal dysraphism.

Clinical characteristics of OPD type I cases with the FLNA gene c_620C>T pathologic variant_

ParametersCase 1aCase 2aCase 3Case 4Case 5Case 6Case 7Case 8Case 9
[7][7][6][6][6][5][5]
Hypertelorism[+][+][+][+][+][+][+][+][+]
Down-slanting fissures[+][+][+][+][+][+][+][+][+]
Cleft palate[+][–][+][+][+][+][+][+][+]
Micrognathia[+][+][+][+][+][+][+][+][+]
DeafnessNANA[+][+][+][+][+]NANA
Digital anomalies[+][+][+][+][+][+][+][+][+]
Chest deformities[+][–][–][+][+][+][+]NANA
Ophtalmologic findings[+][–][–][–][–][–][–][–][–]
Perinatal/neonatal mortality[+]NA[–][–][–][–][–][–][–]
DOI: https://doi.org/10.2478/bjmg-2019-0024 | Journal eISSN: 2199-5761
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Language: English
Page range: 83 - 88
Published on: Dec 21, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Autopsy,
Filamin A gene (),
Microphtalmia,
Otoplalatodigital syndrome type I (OPD type I); Prenatal diagnosis (PND)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 I Joksic, G Cuturilo, A Jurisic, S Djuricic, B Peterlin, M Mijovic, Orlic N Karadzov, A Egic, Z Milovanovic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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