Agnathia otocephaly: A case from the Katanga Copperbelt
Tony Kayembe-Kitenge1,2,3, Vicky Manyong'a Kadiamba4, Chiara de Luca5
1Unit of Toxicology and Environment, School of Public Health, University of Lubumbashi, Lubumbashi, DR Congo.
Background:
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.
Case:
We studied a female neonate with a clinical diagnosis of agnathia otocephaly, stillborn in Lubumbashi in 2019. The child's father had been working as an artisanal mineworker at the time of conception.
Results:
Genetic analysis did not reveal a causal mutation. The concentrations of cobalt, arsenic cadmium, and uranium in cord blood of the infant were much higher than those of normal neonates from a previous study.
Conclusion:
In the absence of identified genetic causes, we hypothesize this case of agnathia otocephaly was related to an exogenous cause, possibly the father's mining-related job.
