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. 2022 Apr 7;30(Suppl 1):88–608. doi: 10.1038/s41431-021-01026-1
Clinical phenotype comparisons between our patient and the previous cases with gain of one copy at band 14q22q23.1 that include OTX2 gene
Our patient Ballesta-Martínez MJ, 2013PMID: 23794319 Zielinski D, 2014PMID: 24816892 Ehrenberg M,2019PMID: 31814694
Family relationship Index case Index case Father Uncle Cousin Cousin´s son Cousin´s daughter Maternal grand-mother Maternal great-uncle Mother Brother index case Indexcase Father
Facial asymmetry + + + - - + + + + + + + + +
Facial cleft - + + - - + - + + + + + - ND
Temporo-mandibular joint abnormality + + - - ND ND ND + + + + + - ND
Ear constriction/cleft/microtia + + - - - + + - - - - + + ND
Auricular pits - + - - - + + ND ND ND ND ND - ND
Pre- or post-auricular tags + + + + + + + + - + + + - ND
Stenoticnarrow ear canals + + - ND ND + + ND ND ND ND ND - ND
Abnormal palate - - - - - - - ND ND ND ND ND - ND
Micrognathia + + - - - - - - + - + + + ND
Hearing loss + + - - ND - - ND ND ND ND ND + ND