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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., (© 2020 Wiley Periodicals LLC.)

Background: The extraction and processing of copper and cobalt in the African Copperbelt in the Democratic Republic of Congo have led to substantial environmental pollution, causing concerns about possible adverse effects on human health, including birth defects., Cases: We report three neonates with clinically diagnosed holoprosencephaly who were part of a case-control study performed in Lubumbashi between February 2013 and February 2015. One mother had a high concentration of uranium in urine, and high manganese concentrations were found in blood of another mother and in cord blood of one infant. Two of the three fathers had a mining-related job., Discussion: We hypothesize that these cases of holoprosencephaly were connected to mining-related pollution, possibly via epigenetic alterations induced by paternal occupational exposure to toxic metals., (© 2019 Wiley Periodicals, Inc.)