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Agnathia otocephaly: A case from the Katanga Copperbelt

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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… Click to show full 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 higher risk of congenital malformations has been associated with paternal work in mining in the Democratic Republic of the Congo's part of the Copperbelt.

Keywords: katanga copperbelt; agnathia otocephaly; otocephaly case; case katanga

Journal Title: Birth Defects Research
Year Published: 2020

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