Agnathia otocephaly: A case from the Katanga Copperbelt

Abstract

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.

Health Studies in the Context of Artisanal and Small-Scale Mining: A Scoping Review

“…The remaining studies were related to integrated approaches, comprising HBM and health assessment (HA) (n = 68), HA and HRA (n = 9), HBM, HRA and HA (n = 6) and HRA and HBM (n = 1). Of note, three out of four medical case reports were related to both HBM and HA [47][48][49]. Overview of the characteristics of the 176 included health studies.…”

“…Besides chemical pollutants, blood, and urine samples were also analysed for other physiological parameters, such as blood lactate and cyanide [73,74], haematological parameters, and other blood chemistry [47,75], mitochondrial DNA, and other DNA mutations [48,[76][77][78], immunological response to vaccines, and other immune-related proteins [50,79,80], renal and respiratory parameters [75,81], and infectious diseases, such as malaria [82] and HIV [47,83]. Saliva (cortisol salivary) [84], Buccal cells (DNA damage and mutations) [63,77], and stool samples (soil-transmitted helminths and Vibrio cholerae) [85,86] were also reported.…”