8 research outputs found
Prenatal diagnosis of a rare case of iniencephaly apertus
Iniencephaly is a rare neural tube defect that was firstly reported by Saint-Hilaire in 1836. Its incidence ranges from 0.1 to 10 in 10,000 deliveries with higher incidence in females. The most common features present iniencephaly are bifida at the cervical region, defect in the occipital bone and retroflexion of the head on the cervical spine. Here we report a case of a 24 years old second gravida with a history of consanguinity. She presented with a malformed fetus at 22 weeks gestation diagnosed by detailed ultrasonographic anatomy scan as iniencephaly apparatus. Termination of pregnancy was performed vaginally through medical induction by prostaglandins
A rare case of lethal campomelic dysplasia
Campomelic dysplasia is a rare and mostly lethal congenital malformation. It is known as an autosomal dominant disorder due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Here we report a case of a 26 years old primigravida married for 3 years with a history of consanguinity. She was impregnated by intracytoplasmic sperm injection (ICSI) due to male factor infertility. This mostly lethal skeletal anomaly was diagnosed by detailed ultrasonography in the late second trimester. She underwent an induction of labor termination due to intrauterine fetal demise
Prenatal diagnosis of a rare case of iniencephaly apertus
Iniencephaly is a rare neural tube defect that was firstly reported by Saint-Hilaire in 1836. Its incidence ranges from 0.1 to 10 in 10,000 deliveries with higher incidence in females. The most common features present iniencephaly are bifida at the cervical region, defect in the occipital bone and retroflexion of the head on the cervical spine. Here we report a case of a 24 years old second gravida with a history of consanguinity. She presented with a malformed fetus at 22 weeks gestation diagnosed by detailed ultrasonographic anatomy scan as iniencephaly apparatus. Termination of pregnancy was performed vaginally through medical induction by prostaglandins