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Published in 2020 at "Birth Defects Research"
DOI: 10.1002/bdr2.1758
Abstract: Agnathia otocephaly is a rare craniofacial malformation complex characterised by absent/hypoplastic mandible, abnormally positioned ears meeting at level of neck. Besides mutations in two genes, PRRX1 and OTX2, a teratogenic cause has been suggested. A…
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Keywords:
katanga copperbelt;
agnathia otocephaly;
otocephaly case;
case katanga ... See more keywords
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Published in 2021 at "Translational pediatrics"
DOI: 10.21037/tp-21-235
Abstract: Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. It can occur alone or in combination with forebrain…
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Keywords:
prenatal ultrasound;
case;
report;
agnathia otocephaly ... See more keywords