Agnathia otocephaly: A case from the Katanga Copperbelt.

Authors :: Kayembe-Kitenge T
Manyong'a Kadiamba V
de Luca C
Musa Obadia P
Kasamba Ilunga E
Mbuyi-Musanzayi S
Nawrot T
Lubaba Nkulu CB
Nemery B
Devriendt K
Source :: Birth defects research [Birth Defects Res] 2020 Oct; Vol. 112 (16), pp. 1287-1291. Date of Electronic Publication: 2020 Jul 08.
Publication Year :: 2020
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.<br />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.<br />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.<br />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.<br /> (© 2020 Wiley Periodicals LLC.)