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

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Open Access

|Dec 2019

Figures & Tables

Clinical characteristics of OPD type I cases with the FLNA gene c.620C>T pathologic variant.

Parameters	Case 1^a	Case 2^a	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8	Case 9
Parameters	Case 1^a	Case 2^a	[7]	[7]	[6]	[6]	[6]	[5]	[5]
Hypertelorism	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]
Down-slanting fissures	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]
Cleft palate	[+]	[–]	[+]	[+]	[+]	[+]	[+]	[+]	[+]
Micrognathia	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]
Deafness	NA	NA	[+]	[+]	[+]	[+]	[+]	NA	NA
Digital anomalies	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]	[+]
Chest deformities	[+]	[–]	[–]	[+]	[+]	[+]	[+]	NA	NA
Ophtalmologic findings	[+]	[–]	[–]	[–]	[–]	[–]	[–]	[–]	[–]
Perinatal/neonatal mortality	[+]	NA	[–]	[–]	[–]	[–]	[–]	[–]	[–]

[i] NA: not available; numbers in brackets indicate the cited references.

^a Data for cases 1 and 2 are from this study.

DOI: https://doi.org/10.2478/bjmg-2019-0024 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160

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

Keywords:

Related subjects:

© 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.