Agnathia otocephaly: A case from the Katanga Copperbelt. Issue 16 (8th July 2020)

• Record Type: Journal Article
• Authors: Kayembe‐Kitenge, Tony; Manyong'a Kadiamba, Vicky; de Luca, Chiara; Musa Obadia, Paul; Kasamba Ilunga, Eric; Mbuyi‐Musanzayi, Sébastien; Nawrot, Tim; Lubaba Nkulu, Célestin Banza; Nemery, Benoit; Devriendt, Koenraad
• Is Part Of: Birth defects research. Volume 112:Issue 16(2020)
• Page Start: 1287
• Page End: 1291
• Publication Date: 2020-07-08
• Subjects: agnathia–otocephaly -- epigenetic -- metals‐mining -- DNA replication -- Katanga; Teratology -- Periodicals; Abnormalities, Human -- Periodicals; Congenital Abnormalities; Embryo, Mammalian -- abnormalities; Teratology; Abnormalities, Human; Teratology; Periodicals; Periodicals; 616.043
• DOI: 10.1002/bdr2.1758
• Languages: English
• ISSNs: 2472-1727

Abstract

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.