{Reference Type}: Case Reports
{Title}: Agnathia otocephaly: A case from the Katanga Copperbelt.
{Author}: 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;
{Journal}: Birth Defects Res
{Volume}: 112
{Issue}: 16
{Year}: 10 2020
暂无{DOI}: 10.1002/bdr2.1758
{Abstract}: 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>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>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>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.