Though Early Cardiac Involvement Can Be Seen With Novel Mutations

Abstract

We evaluated a Comorian girl aged 3 years 6 months with neuroregression and seizures. Te child was third born to second-degree consanguineous parents by lower-segment cesarean section due to cephalopelvic disproportion. Birth weight was 3.1 kg with uneventful perinatal history. Tere was maternal history of normal healthy live birth in the frst pregnancy and spontaneous miscarriages in second and fourth pregnancies in early trimesters. Te fourth pregnancy was associat