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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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Journal Title: Birth Defects Research
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!