BLTP1 and spina bifida: A subsequent study screening 44 families with terminating pregnancies identified two unrelated families with KIAA1109 mutations: i) a truncating mutation was reported in a patient with hydrocephalus, hypoplastic cerebellum, skin edema and bilateral talipes with a history of two preceding intrauterine fetal deaths at 6 months of pregnancy with similar presentations (severe hydrocephalus, spina bifida, and polyhydramnios) and ii) a splice site mutation was identified in a patient with hydrocephalus and arthrogryposis [16].